BMC Neurology最新文献

Background: Observational studies suggest an association between leukemia and stroke, but causality remains unclear. Certain leukemia types may increase stroke risk, but variations exist in stroke and mortality rates across leukemia subtypes. This study employed Mendelian randomization (MR) to investigate links between leukemia subtypes and stroke.

Methods: We conducted a two-sample Mendelian randomization (TSMR) study utilizing genetic variants linked to various subtypes of leukemia as instruments to investigate their causal effects on stroke, specifically ischemic stroke (IS) and intracerebral hemorrhage (ICH). The leukemia dataset comprised 456,276 subjects from the UK Biobank, while the stroke dataset was sourced from the FINNGEN consortium, encompassing 212,774 participants.

Results: In the present study, there was suggestive evidence that genetically predicted chronic lymphocytic leukemia (CLL) is associated with ischemic stroke (odds ratio, 1.02; 95% confidence intervals, 1.01-1.05; P = 0.024), but no significant association was observed with intracerebral hemorrhage (ICH) (0.74; 0.99-1.03; P = 0.237). Additionally, chronic myeloid leukemia (CML), acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) was no significant associations between with stroke according to genetical prediction even if heterogeneity test and pleiotropic test was performed.

Conclusions: Our Mendelian randomization analysis revealed that chronic lymphocytic leukemia (CLL) was associated with an increased risk of ischemic stroke (IS) but not intracerebral hemorrhage (ICH). Conversely, there was no evidence supporting causal associations of chronic myeloid leukemia (CML), acute lymphoblastic leukemia (ALL), or acute myeloid leukemia (AML) with either type of stroke. These findings enhance our comprehension of the intricate interplay between various leukemia subtypes and the risk of stroke. Further research is essential to delve into the underlying mechanisms and potential clinical implications of these observed associations.

Background: Brain processing of both somatosensation and emotion is altered in individuals with cerebral palsy. This paper aims at further exploring the interaction between the somatosensory system and affective processing in individuals with cerebral palsy.

Methods: Somatosensory thresholds and emotion knowledge were assessed in 18 adults with cerebral palsy and compared with 15 age and sex-matched controls. EEG event-related potentials elicited by viewing affective pictures were recorded. During event-related potentials acquisition, a continuous cutaneous electrical stimulus was applied either at supra- or sub-threshold intensity.

Results: Adults with CP had higher pain sensitivity and increased emotion difficulties, as well as lower event related potential amplitudes than controls. Moreover, the modulatory effects of the somatosensory stimuli on the brain processing of affective pictures differed between adults with CP and controls. Sex was an important factor affecting somatosensory modulation in affective picture brain processing.

Conclusions: In adults with CP the interaction of abnormal processing of somatosensory and emotional inputs may give rise to a more basic interpretation of emotional cues in complex contexts. Pain sensitivity and sex appear as relevant factors that influence the processing of emotions in CP and should be taken into account in research and clinical settings.

Introduction: This study aims to evaluate the clinical and imaging risk factors for early neurological deterioration (END) and long-term neurological disability in patients with Single subcortical small infarction (SSSI).

Methods: We retrospectively included SSSI patients hospitalized. Outcomes were defined as modified Rankin Scale (mRS) score > 2 at follow-up and the occurrence of END during hospitalization. Multivariate logistic regression identified independent predictors of END and long-term outcomes. Stepwise regression analysis was used to develop a predictive model for poor outcomes. The predictive performance of risk factors and the model was assessed using receiver operating characteristic (ROC) curves.

Results: A total of 289 SSSI patients were included. During hospitalization, 18 patients (6.2%) experienced END, and 29 patients (10%) had neurological disability at a median follow-up of 21.4 (16.7-25.2) months. Multivariate analysis showed the National Institutes of Health Stroke Scale (NIHSS) score(OR 1.43, 95% CI 1.19-1.73, P < 0.001), and neutrophil to high-density lipoprotein cholesterol ratio (NHR) (OR 1.28, 95% CI 1.02-1.60, P = 0.034) were independently associated with END. Age (OR 1.08, 95% CI 1.01-1.15, P = 0.028), NIHSS (OR 1.60, 95% CI 1.29-1.98, P < 0.001), symptomatic intracranial artery stenosis (OR 5.26, 95% CI 1.56-17.71, P = 0.007), lacune number (OR 1.51, 95% CI 1.13-2.04, P = 0.006), the degree of brain atrophy (OR 2.03, 95% CI 1.19-3.46, P = 0.01), and mean hemoglobin concentration (MCHC) (OR 0.96, 95% CI 0.92-0.99, P = 0.04) were independently associated with neurological disability. The predictive model for END (included NIHSS score and NHR level) and long-term neurological disability (included age, NIHSS score, symptomatic intracranial artery stenosis, number of lacunes, and brain atrophy) showed areas under the ROC curve of 0.836 and 0.926, respectively.

Conclusion: High NIHSS and NHR are independent risk factors for END. Age, NIHSS, symptomatic intracranial artery stenosis, the number of lacunes, and brain atrophy are predictors of neurological disability in SSSI patients.

Background: Seizures are a common but often overlooked manifestation of MELAS. This study aimed to describe the characteristics of seizures in MELAS and to analyze the clinical, electroencephalographic, imaging, and biochemical factors associated with drug-resistant epilepsy.

Methods: A single-center retrospective study was conducted to investigate the clinical characteristics of seizures in MELAS patients. The study collected data on clinical features, muscle biopsy results, genetic testing, seizure symptoms, electroencephalography (EEG), neuroimaging findings, cerebrospinal fluid and blood biochemistry, and the modified Rankin Scale (mRS). We also investigated the correlation between seizure frequency and mRS scores. In addition, we analyzed the risk factors for drug-resistant epilepsy in MELAS.

Results: A total of 37 patients with confirmed MELAS (24 males and 13 females) were included in the study. All patients experienced seizures, with an onset age ranging from 14 to 53 years and a mean of 32 years. These MELAS patients experienced a variety of seizure types, with generalized seizures being the most common. EEG findings revealed background rhythm abnormalities in all patients, and epileptiform discharges were observed in 37.8% of patients during the interictal phase. Status epilepticus (OR 16.499; 95% CI, 1.615-168.557; P = 0.018) and elevated resting serum lactate levels (OR 8.594; 95% CI, 1.342-59.733; P = 0.024) were identified as independent risk factors for drug-resistant epilepsy. In addition, changes in the seizure frequency at the last follow-up compared to baseline were positively correlated with the mRS score. (r = 0.533, p < 0.001).

Conclusion: Status epilepticus and elevated resting serum lactate levels were predictive of the development of drug-resistant epilepsy in MELAS. Poor seizure control was significantly associated with increased clinical disability. Early identification of high-risk patients for drug-resistant epilepsy could facilitate the development of more effective treatment plans.

Background: Elderly individuals are susceptible to the accrual of White Matter Lesions (WMLs), a subcategory of cerebral small-vessel disease. WMLs are strongly linked to an increased risk of strokes, intracerebral hemorrhages, and dementia. While the relationship between blood glucose levels and the development of WMLs has been investigated in previous studies, the findings remain inconsistent. Some evidence suggests that glucose dysregulation, including both hypo- and hyperglycemia, may contribute to WML formation through mechanisms such as endothelial dysfunction and chronic inflammation. However, other studies report no significant correlation. This inconsistency underscores the need for further investigation.

Methods: In this investigation, the primary data were derived from a predictive mathematical model designed to estimate WMLs based on parameters obtained from routine medical examinations, with head MRI scans serving as the reference standard for WML diagnosis and quantification. We leveraged multivariable logistic regression analysis to scrutinize the relationship between blood glucose concentrations and WMLs. Additionally, we employed a restricted cubic spline regression model to investigate a potential non-linear relationship between these variables.

Results: There were 1904 participants who underwent medical check-ups which included a head MRI. Generally, the relationship between blood glucose levels and white matter lesions followed an asymmetric U-shaped curve (P for non-linearity = 0.004). A consistent finding was that compared to the individuals in the 2nd and 3rd quartiles (95 to 107 mg/dl), the 1st quartile (OR, 1.71; 95% CI: 1.26-2.30) and 4th quartile (OR, 1.57; 95%CI: 1.12-2.20) had white matter lesions were significantly higher.

Conclusion: An asymmetric U-shaped relationship exists between blood glucose and WMLs, with the lowest risk occurring at 95-107 mg/dl. Management of blood glucose can help prevent the occurrence and development of WMLs. However, the study's cross-sectional design limits causal inference, and the reliance on pre-existing data constrained the availability of variables.

Background: Acute intermittent porphyria (AIP) is an inherited metabolic disorder that can affect the central, peripheral, and autonomic nervous systems. Therefore, its clinical presentation is diverse and may include abdominal pain, as well as neurological and psychiatric symptoms. Abdominal pain, though a common initial symptom, is often overlooked or misdiagnosed due to its lack of specificity. But early diagnosis and treatment are crucial, as untreated symptoms can progressively worsen.

Case presentation: This report describes a 26-year-old male who was admitted due to seizures and PRES changes on brain magnetic resonance imaging (MRI) for over 30 days, along with a 20-day history of sudden proximal weakness in both upper limbs. Additionally, he experienced recurrent vomiting and excessive sweating. Five months before admission, he was diagnosed with a urinary tract infection due to severe abdominal pain and tea-colored urine, and the symptoms resolved after treatment. Multiple examinations before and after admission consistently revealed hypertension, tachycardia, and hyponatremia. Electromyography (EMG) suggested axonal damage to the motor nerves of both upper limbs. During hospitalization, the patient's upper limb weakness progressively worsened, and around 12 days after admission, he began experiencing recurrent episodes of abdominal pain and limb pain. Then he was diagnosed with AIP based on the detection of positive PBG in urin and the identification of a c.445C > T (R149X) mutation in the hydroxymethylbilane synthase (HMBS) gene.

Conclusions: This case unveils that AIP is a disease that can be easily overlooked in its early stages. When a patient presents with central, peripheral, or autonomic nervous system symptoms and common causes are ruled out, AIP should be considered as a potential diagnosis. Additionally, unexplained symptoms such as abdominal pain, changes in urine color, hyponatremia should also raise suspicion. Timely screening through biochemical testing, including measurement of ALA, PBG and porphyrins in a random urine sample, is recommended. Timely administration of intravenous hemin and avoidance of precipitating factors can lead to a better prognosis.

Objective: To investigate the association between the presence of the HMCAS on CT prior MT and the occurrence of poor functional outcomes and sHT in LVO patients attributed to CE and LAA etiology.

Methods: We conducted a retrospective analysis using patient data from three comprehensive stroke centers. Patients were categorized into four groups: (1) LAA with HMCAS, (2) LAA with no HMCAS, (3) cardioembolic with HMCAS, (4) cardioembolic with no HMCAS based on the presence of HMCAS and the underlying stroke etiology. We compared the 90-day modified Rankin score (mRS) and the incidence of sHT between 1 vs. 2, and 3 vs. 4.

Results: 295 patients were included, of which 93 (31.5%) exhibited HMCAS. Patients with HMCAS associated with cardioembolism (CE) had a less favorable outcome, and there was no significant difference in the rate of sHT between group 3 and 4. Conversely, there was no significant difference in prognosis and the rate of sHT between patients between group 3 and 4. In multivariate logistic regression analysis, the HMCAS independently predicted poor prognosis in patients who underwent MT due to CE (OR: 0.193, 95% CI: 0.040-0.937, p = 0.041).

Conclusion: In patients with AIS-LVO attributed to cardioembolic etiology who underwent MT, the presence of HMCAS on initial NCCT scans was found to be associated with an unfavorable outcome.

Clinical trial registration: ChiCTR 2,300,074,368.

Objective: This study aimed to compare the short-term prophylactic efficacy of greater occipital nerve (GON) blockade in menstrual migraine (MM) subgroups and evaluate the long-term effects on patients' quality of life.

Methods: In this prospective study, 33 patients diagnosed with MM (15 with pure menstrual migraine [PMM] and 18 with menstrually related migraine [MRM]) received bilateral GON blockade once a month, one week before menstrual bleeding, for three months. Patients were evaluated before treatment (month 0) and after treatment completion (months 3 and 6) using the Visual Analog Scale (VAS), Headache Impact Test-6 (HIT-6), Migraine Disability Assessment (MIDAS), and Beck Depression Inventory (BDI) scores.

Results: MRM patients had a lower age of MM onset (p = 0.024), higher headache frequency (p = 0.004), and increased medication overuse (p = 0.027) compared to PMM patients. After GON blockade, significant improvements were observed in VAS, HIT-6, MIDAS, and BDI scores in both subgroups, with no significant differences between them. The improvement persisted during the medication-free follow-up period (months 3-6). Patients with mild or no depression showed a more substantial increase in quality of life. Patients experiencing a 50% reduction in headache days demonstrated significant improvement in BDI scores.

Conclusion: GON blockade may be an effective option for short-term and long-term prophylaxis in the treatment of MM, reducing the frequency and severity of headaches and improving quality of life and psychological state. Further research with larger patient cohorts and placebo-controlled trials is necessary to validate these findings.

Background: Aggregation of cohort data increases precision for studying neurodegenerative disease pathways, but efforts to combine data and expertise are often hampered by infrastructural, ethical and legal considerations. We aimed to unite various cohort studies in the Netherlands to enhance research infrastructure and facilitate research on dementia etiology and its public health implications.

Methods: The Netherlands Consortium of Dementia Cohorts (NCDC) includes participants with initially no established cognitive impairment from 9 Dutch cohorts: the Amsterdam Dementia Cohort (ADC), Doetinchem Cohort Study (DCS), European Medical Information Framework for Alzheimer's Disease (EMIF-AD), Longitudinal Aging Study Amsterdam (LASA), the Leiden Longevity Study (LLS), The Maastricht Study, the Memolife substudy of the Lifelines cohort, Rotterdam Study and Second Manifestations of ARTerial disease-Magnetic Resonance (SMART-MR) study. The objectives of NCDC are to improve data infrastructure and access to cohorts related to aging and dementia, investigate the role of Alzheimer's disease and vascular pathology in the development of dementia and estimate the public health impact of established dementia risk factors by assessing their relative contribution to the population burden of dementia.

Results: We increased the findability, accessibility, interoperability and reusability (FAIR) status of the cohorts through harmonization of data across cohorts, implementation of medical imaging repositories for scan management, implementation of the Personal Health Train infrastructure and provision of meta-data in existing cohort catalogues. We established the ethical and legal frameworks required for federated and pooled analyses and performed the first remote federated data analyses using the Personal Health Train infrastructure. To determine biomarkers of Alzheimer's disease, endothelial dysfunction and inflammation, 2554 plasma samples were analyzed centrally. Federated, pooled, and coordinated meta-analyses have led to multiple publications in the context of NCDC.

Conclusion: The combination of population-based and clinical cohorts, the coordinated assessment of plasma markers in previously collected samples and implementation and use of the Personal Health Train infrastructure for federated analysis are both feasible and promising for future collaborative efforts.