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[This corrects the article DOI: 10.1016/j.ensci.2024.100537.].
[This corrects the article DOI: 10.1016/j.ensci.2022.100436.].
Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare and severe form of stiff-person spectrum disorders, typically associated with painful spasms, brainstem involvement, and autonomic dysfunction. Previous reports have described fractures as an uncommon but recognized complication of PERM, typically attributed to mechanical stress from recurrent spasms; however, disrupted γ- aminobutyric acid (GABA)ergic signaling may also impair bone metabolism. We report a 53-year-old man with seronegative PERM who developed vertebral and pelvic fractures without trauma during hospitalization. Immunotherapy with intravenous immunoglobulin, methylprednisolone, and rituximab improved neurological symptoms, but spasticity persisted. Bone turnover markers remained persistently elevated and bone healing was delayed even 6 months after the fractures. Introduction of intrathecal baclofen resulted in marked reduction of spasticity, normalization of bone markers, improvement in bone mineral density, and radiographic evidence of fracture healing. This case suggests that impaired GABAergic signaling in PERM may contribute to high-turnover bone metabolism and skeletal fragility, in addition to mechanical stress. Awareness of this potential complication is important, as early initiation of immunotherapy combined with GABA-enhancing therapy may improve both neurological and skeletal outcomes.
Concurrent trigeminal neuralgia (TN) and hemifacial spasm (HFS), historically termed painful tic convulsif, is a rare manifestation of cranial nerve hyperactive dysfunction associated with neurovascular compression. The operative anatomy may involve independent conflicts affecting cranial nerves V and VII or shared compression, particularly in vertebrobasilar dolichoectasia. We report a case of medication-refractory TN with ipsilateral HFS treated by microvascular decompression (MVD) and integrate the findings with a focused review of 23 studies addressing combined cranial nerve hyperactive dysfunction and dual neurovascular compression. A 35-year-old male presented with TN in the V2-V3 distribution followed by progressive ipsilateral HFS. High-resolution MRI showed neurovascular contact of the trigeminal nerve by the superior cerebellar artery and facial nerve compression by a separate posterior inferior cerebellar artery loop. Retrosigmoid MVD confirmed independent dual conflicts. Decompression of both nerves produced immediate resolution of pain and spasms, with sustained symptom-free status at two-year follow-up. Published reports support neurovascular compression as the principal surgically treatable mechanism in painful tic convulsif, with independent dual conflicts and shared ectatic vertebrobasilar compression both described. Painful tic convulsif is best considered within the spectrum of cranial nerve hyperactive dysfunction. Comprehensive inspection of both the trigeminal and facial nerves during MVD is essential, because missed offending vessels may lead to persistent or recurrent symptoms. When all responsible conflicts are identified and decompressed, single-session MVD can provide durable relief in appropriately selected patients.
Despite major advances in acute stroke therapy, particularly mechanical thrombectomy (MT) for large-vessel occlusion, predicting outcomes in acute ischemic stroke (AIS) remains challenging. Secondary injury mechanisms such as neuroinflammation and neuronal damage contribute substantially to poor recovery, yet are insufficiently captured by clinical and imaging models alone. Interleukin-6 (IL-6) and neuron-specific enolase (NSE) represent complementary biomarkers of these processes, but their combined and serial prognostic value in MT-treated patients has not been fully defined. To evaluate the prognostic significance of serial plasma IL-6 and NSE measurements for predicting stroke severity, complications, and functional recovery in AIS patients undergoing MT. In this prospective study, 70 patients with AIS due to large-vessel occlusion treated with MT were enrolled. IL-6 and NSE were measured on Day1 and Days7-10. Associations with neurological severity (NIHSS), hemorrhagic transformation, and functional outcome (mRS) were analyzed. Multivariate linear regression and hierarchical logistic regression models were used to assess the incremental prognostic value of biomarkers beyond established clinical predictors. Higher IL-6 and NSE levels were associated with greater neurological severity, unfavorable functional outcomes, and hemorrhagic transformation at both time points. NSE showed moderate correlations with NIHSS and mRS (R2 = 0.19-0.23). In multivariable models, IL-6 and NIHSS independently predicted mRS at discharge. Serial IL-6 measurements significantly improved prediction of unfavorable outcome beyond NIHSS alone, increasing the AUC from 0.847 to 0.914 in the fully adjusted model (ΔAUC = +0.067, p < 0.001), whereas NSE provided complementary biological information on neuronal injury. Serial assessment of IL-6 and NSE offers clinically meaningful insight into inflammatory and neurodestructive mechanisms that influence recovery after AIS treated with MT. In particular, dynamic IL-6 measurements provide measurable incremental prognostic value beyond baseline neurological severity, supporting their integration into multimodal risk-stratification strategies for personalized post-stroke management.
Hereditary transthyretin amyloidosis (ATTRv) is a systemic disorder that may mimic motor neuron disease (MND), leading to misdiagnosis and delayed access to disease-modifying therapies. We report the first genetically confirmed case of ATTRv mimicking amyotrophic lateral sclerosis (ALS) in Saudi Arabia. A 47-year-old male presented with progressive right-sided limb weakness (proximal > distal) and dysarthria over 18 months. Neurological examination revealed fasciculations, distal atrophy, and brisk reflexes with normal muscle tone and no spasticity. Electrophysiological studies demonstrated a length-dependent sensorimotor axonal neuropathy with widespread denervation changes involving bulbar, cervical, and lumbosacral regions. Brain and spine MRI, along with whole-body CT, excluded structural or paraneoplastic causes. Genetic testing identified a pathogenic heterozygous variant in the TTR gene: NM_000371.4:c.424G > A (p.Val142Ile). Transthoracic echocardiography revealed mild concentric left ventricular hypertrophy. There was no clinical evidence of autonomic, renal, or ocular involvement. This case underscores the importance of considering ATTRv in patients presenting with atypical MND, particularly when clinically significant sensory symptoms, absent upper motor neuron signs, or unexplained cardiac abnormalities are present. Early diagnosis enables access to targeted therapies such as TTR stabilizers and gene-silencing agents, which can alter disease trajectory.
Spinal cord injury (SCI) presents formidable challenges, with current regenerative treatments such as stem cell therapy and spinal stimulation showing inconsistent results in clinical trials. Advances in understanding the pathophysiology of SCI have directed regenerative strategies toward reducing inflammation and promoting angiogenesis. Hyperbaric oxygen therapy (HBOT), typically applied in pulmonary and dermatological contexts, emerges as a promising off-label treatment for SCI. This manuscript examines HBOT's mechanisms, clinical considerations, and outcomes in SCI, emphasizing its potential to enhance oxygenation, stimulate angiogenesis, reduce inflammation, and modify gene expression. Although further research is required to validate its efficacy fully, our analysis indicates that HBOT could significantly improve motor and sensory recovery in SCI patients, positioning it as a valuable therapeutic option.
Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor and non-motor symptoms that substantially affect quality of life (QoL). While dopaminergic dysfunction is central to PD pathology, the cross-sectional relationship between striatal dopaminergic activity and clinical outcomes remains incompletely understood. This study investigated associations between dopaminergic activity, measured via DATSCAN imaging, and clinical outcomes including cognitive performance, mobility, and QoL. In this cross-sectional observational study, PD patients (n = 146; age 37.9-85.6 years) and healthy controls (n = 37; age 32.2-86.7 years) were evaluated. Cognitive and communication-related QoL were assessed using Neuro-QoL, motor and non-motor symptoms were quantified with MDS-UPDRS, and cognitive performance was measured using COGSTATE and derived indices (COGDECLN, COGCHG). DATSCAN imaging quantified striatal dopaminergic activity in the caudate and putamen. Correlations between DATSCAN metrics and clinical outcomes were analyzed, accounting for multiple comparisons. DATSCAN metrics showed no significant associations with cognitive performance or QoL, and only modest correlations with mobility measures. Sensitivity analyses confirmed robustness of these findings. The limited predictive value of DATSCAN underscores the complexity of PD, including contributions of non-dopaminergic mechanisms. Although DATSCAN is valuable for confirming PD diagnosis, its ability to predict clinical outcomes such as cognition, QoL, or motor complications is limited. These results highlight the multifactorial nature of PD and the need to integrate dopaminergic imaging with comprehensive clinical assessments for personalized patient care.
Brain arteriovenous malformations (AVMs) are rare vascular anomalies managed with surgery, radiosurgery, or endovascular embolization. Post-embolization intracranial infections are extremely uncommon, especially Escherichia coli abscesses in immunocompetent adults. We report a 37-year-old man with a giant left frontal AVM treated with staged Onyx® embolization. One month after the final session, he developed a left frontal brain abscess with motor aphasia and right-sided hemiparesis. Cultures grew hemolytic E. coli sensitive to multiple antibiotics. Recurrence after initial drainage necessitated complete AVM and nidus resection, followed by prolonged targeted antibiotic therapy, leading to resolution and neurological recovery. Intracranial E. coli infections and post-AVM embolization abscesses are rare, typically associated with systemic or local immunosuppression. Our case is among the first describing hemolytic E. coli abscess after Onyx® embolization in a healthy adult. Retained embolic material, local inflammation, and blood-brain barrier disruption may facilitate infection. Early recognition and total removal, and prolonged targeted antibiotics are crucial to prevent recurrence and ensure favorable outcomes.
Cognitive decline with age and other clinical conditions are linked with reduced hypothalamic-pituitary-adrenal (HPA) axis function. Stimulating the HPA axis with supplemental growth hormone (GH) treatment can improve cognition, however, potential direct effects of stimulation with growth hormone releasing hormone (GHRH) are not established. In a double-blind, placebo-controlled pilot trial, we assessed 22 subjects with baseline cognition ranging from normal cognition to mild cognitive impairment before and after 10 weeks of treatment with low-dose tesamorelin (1 mg; GHRH analog) or placebo. We compared groupwise changes in body composition, fatigue, sleep, physical performance, glucose tolerance, cognitive function, and brain morphometry and functional connectivity. Low-dose GHRH treatment was not directly linked with significant changes in study measures. Using advanced machine learning (ML) models to further examine the data we identified potential treatment-related differences in areas of the brain related to cognitive function including the right anterior cingulate and left superior frontal occipital fasciculus. This pilot study highlights the potential benefits of pairing cognitive tests and neuroimaging with ML tools to achieve greater sensitivity for treatment-related effects. The clinical trial registration number is: NCT02553603.
Multiple sclerosis is a chronic, inflammatory, autoimmune disease of the central nervous system. Accumulating neurological disability has a substantial impact on the lives of patients with MS. The Expanded Disability Status Scale is a method of quantifying disability in MS. The aim of this study was to analyze the disability trajectory across years of patients living with MS seen at the Neurological Institute and to explore factors associated with the rate of change per year. A single-center study was conducted at the Neurological Institute located in the city of Medellin based on medical records obtained from 2013 to 2021. The clinical and demographic characteristics were analyzed using descriptive statistics. To recognize changes in the rate of increase in disability measured by the EDSS with increasing time lived with the disease, a polynomial model was used. Disability measured by the EDSS was not linear over time, there were times when disability progressed more rapidly and other times when it was slower. The bivariate model showed that variables such as gait medications and botulinum toxin had the highest beta values; however, the multivariate model showed that clinical and sociodemographic variables such as initial cerebellar symptoms and sex had the highest significant beta values. This type of study facilitates predictions of natural history within the risk scheme. Prognostic models for chronic diseases are needed to guide management decisions and counseling of patients and their families. Such models can consider outcomes ranging from response to treatment to changes in disability.
Despite abundant evidence linking hyperglycemia to stroke, its heterogeneous effects across stroke etiologies and lesions remain unclear. We examined the associations between admission glycated hemoglobin (HbA1c) levels and stroke subtypes, lesions, and functional outcomes. Adults with acute ischemic stroke admitted between 2016 and 2020 were analyzed using a Japanese nationwide registry. Patients were grouped by admission HbA1c (<6.0%, 6.0-6.9%, 7.0-7.9%, and ≥ 8.0%). Stroke subtypes were determined using the Trial of Org 10,172 in Acute Stroke Treatment criteria. Lesion was categorized as cerebral cortex, basal ganglia/corona radiata, thalamus, brainstem, or cerebellum. Unfavorable outcome was defined as discharge modified Rankin Scale (mRS) >2 for patients with premorbid mRS ≤2, or higher discharge mRS than premorbid mRS for others. Associations were assessed using multivariable mixed-effects logistic regression analysis. Among 13,569 patients, HbA1c was <6.0% in 7001 (51.6%), 6.0-6.9% in 4201 (31.0%), 7.0-7.9% in 1264 (9.3%), and ≥ 8.0% in 1103 (8.1%). Higher HbA1c levels were associated with a greater proportion of large artery atherosclerosis (adjusted OR for HbA1c ≥8.0% vs <6.0%, 1.40; 95% CI, 1.19-1.65) and lower proportion of cardioembolism (0.63; 0.50-0.79). Elevated HbA1c levels were associated with higher prevalence of brainstem lesions (2.35; 1.82-3.02) and lower prevalence of cerebral cortex and basal ganglia/corona radiata lesions, even after adjusting for stroke subtype. Unfavorable outcomes were more common in patients with higher HbA1c levels (overall, 1.56; 1.31-1.85), particularly in those with large artery atherosclerosis and cardioembolism. Higher admission HbA1c levels were associated with a higher proportion of large artery atherosclerosis and a lower proportion of cardioembolism, with a higher proportion of brainstem lesions and a lower proportion of cortical and basal ganglia/corona radiata lesions, and with worse functional outcomes.
Recreational use of nitrous oxide (N2O) is a growing public health concern. Its neurological complications include peripheral neuropathy and posterior column myelopathy. Our study aims to characterize the clinical, laboratory, and radiological features of N2O neurotoxicity, and to explore the clinical relevance of various commonly employed investigations in real-world setting. We conducted a retrospective study of 52 consecutive patients diagnosed with N2O-related neurological disorders admitted between 2019 and 2024. Clinical characteristics, serum markers, spinal MRI, and electrodiagnostic (EDX) data were collected. Analyses were primarily descriptive. Exploratory unadjusted associations between MRI findings, EDX classifications, homocysteine status, and symptom-onset variables were assessed using appropriate statistical tests. The median age was 24.0 [21.8;28.0] years, with a female-to-male ratio of 1.7:1. Acute onset (< 4 weeks) was observed in 61.5% of cases. Sensory symptoms occurred in 94.2% and gait ataxia in 86.5%, with 88.5% exhibited a pattern of distal weakness exceeding proximal. Elevated homocysteine was present in 43 (89.6%), whereas low total B12 was found in only 10.4%. MRI abnormalities were detected in 31/48 (64.6%), with the "inverted V" sign in 17 cases (54.8%). Reduced CMAPS with intact sensory potentials was the most common EDX pattern 17 (32.7%), and needle electromyography showed ongoing denervation in 66%. Exploratory association analyses did not identify any significant relationships between EDX classifications, MRI findings, symptom onset, or homocysteine levels. Nitrous oxide neurotoxicity is characterized by predominant sensory symptoms, gait ataxia and elevated homocysteine. EDX patterns are heterogenous and non-specific. A combined approach using spinal MRI, serum homocysteine and EDX could play a key role in differentiating this pathology from other mimickers and achieving a timely and accurate diagnosis.
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•Postpartum stroke can reveal an underlying autoimmune disease.•Coexistence of lupus and Takayasu arteritis is rare.•Small/medium- and large-vessel vasculitis increases vascular risk.•Immunosuppressive therapy led to clinical and radiological improvement.•Early recognition of dual autoimmune vasculitis prevents severe complications.
Listeria infections are uncommon in our clinical practice and often overlooked as a differential diagnosis. It is also difficult to uncover due to presentation with a variety of non-specific clinical signs and symptoms, that could mimic other conditions. In our case report, we discuss a rare and challenging case of a middle-aged alcoholic man with Listeriosis affecting the rhombencephalon. He presented with non-specific symptoms, including agitation and confusion, preceded by flu-like illness. These were accompanied by seizures and fever in hospital, as well as intermittently changing neurological deficits. Although his symptoms were put down to alcohol withdrawal initially, the timely identification of Listeria monocytogenes in blood cultures could aid to point towards the correct diagnosis and hence prompt a lifesaving treatment. It was later confirmed with MRI imaging of the brain, showing inflammation around the brainstem. Lumbar puncture results were also alluding to a meningoencephalitis picture. Despite the high mortality rate, our patient survived and was discharged from hospital six weeks after the initial admission. We will compare our case with other case reports from the literature. Finally, the discussion will highlight the importance of considering Listeria when treating possible encephalitis/ meningitis in patients at risk.
Spastic paraplegia type 79 (SPG79) is a rare form of hereditary spastic paraplegia caused by variants in ubiquitin C-terminal hydrolase L1 (UCHL1). SPG79B, an early-onset autosomal recessive subtype, frequently presents with lower motor neuron involvement, with myokymia as a characteristic feature. In contrast, SPG79A, a late-onset autosomal dominant form, rarely shows lower motor neuron signs, and myokymia has not previously been reported. We report the first documented case of myokymia in SPG79A. A 74-year-old man with an 8-year history of progressive gait disturbance underwent detailed evaluation. The patient exhibited slowly progressive spastic paraplegia and impaired proprioception in the lower extremities. Myokymia was observed in the extremities and trunk. Needle electromyography revealed spontaneous, repetitive discharges of motor unit potentials consistent with myokymia. Genetic testing identified a heterozygous nonsense variant in UCHL1 (c.532C > T: p. Arg178*), confirming a diagnosis of SPG79A. The pathogenesis of both SPG79A and SPG79B likely involves partial loss of UCHL1 function, explaining their overlapping phenotypes. Symptom variability may reflect the extent of residual UCHL1 function, with SPG79B showing broader features, including myokymia. This case suggests that myokymia, though rare in hereditary spastic paraplegias, can also occur in SPG79A and may serve as a diagnostic clue.
Atrial fibrillation (AF) is the most common cardiac rhythm disturbances associated with increased risks of mortality. Oral anticoagulant (OAC) reduces AF-related strokes. However, the pattern of OAC use among AF patients is unknown in Ethiopia. This study evaluated the appropriateness of OAC therapy and associated factors among hospitalized AF patients. A retrospective cross-sectional study was conducted among AF patients hospitalized in medical ward of Adigrat general hospital. Previously validated CHA2DS2-VASc and HAS-BLED scores were used to predict risk of stroke and bleeding, respectively. Multivariate logistic regression was used to identify factors associated with OAC therapy. Data was analyzed using Statistical Package for Social Sciences, setting p-value < 0.05 as a statistically significant. Of the total 84 AF patients, more than half (52.4%) were females and their median age was 64.50 (75-39.5). About 42.9 and 31.0% of the patients were at high risks of stroke and bleeding, respectively. Thirty seven (44.0%) of the patients received no antithrombotics and almost half (48.8%) of them were not prescribed OAC. On the other hand, 51.2% of patients received OAC containing regimen, 40.5% were prescribed with OAC monotherapy and 4.8% received aspirin monotherapy. Among patients at high risk of stroke, 36.1% of them received no antithrombotic drug. Regarding risk of bleeding, the prescription of OAC containing regimen among patients at high risk of bleeding was lower than in those at low risk of bleeding (41.9% versus 56.6%). Almost two third (61.9%) of AF patients were prescribed inappropriately, dominantly being underprescribed (44.0%). Admission time for AF was significantly associated (p < 0.001) with prescription of OAC (Adjusted Odds ratio = 6.587, CI: 2.273 - 19.091 ) . Substantial proportions of AF patients at high risk of stroke were inappropriately prescribed with OACs. Inappropriate prescription was characterized by underprescription. The cardiologists of the hospital should follow AF guidelines to improve prescription patterns with an ultimate goal of improving treatment outcomes.
Training in LMICs for hyperacute stroke relies on didactic methods. This study describes the development and evaluates the impact of a high-fidelity simulation-based interprofessional stroke code training course in Pakistan, aiming to improve teamwork, communication, and clinical decision-making. A quasi-experimental mixed-methods study was conducted at Aga Khan University (AKU) in September 2024. Participants encountering hyperacute stroke participated across Pakistan. A total of 25 participants completed this national-level course across 5 stroke centers. Statistical analysis revealed significant improvements in self-efficacy scores across all tasks, except for manage uncontrolled high blood pressures in patients receiving TPA (p = 0.05583). Notable gains were observed in areas such as interdepartmental communication, prioritizing hyperacute stroke cases during triage and code activation, accurate ASPECT and NIHSS calculation, execution of the hyperacute stroke algorithm and assessment of r-tPA eligibility (p < 0.001).Questionnaire results demonstrated enhancements across all three learning domains cognitive, affective, and psychomotor with individual learning objectives showing improvements ranging from 25% to 40%.Qualitative analysis highlighted key challenges, including the absence of standardized stroke pathways, lack of adherence to evidence-based practices, and delays in patient arrival and workflow efficiency. Participants underscored the need for structured training programs, improved interdepartmental coordination, and the creation of algorithmic workflows. This study demonstrates that high-fidelity simulation-based training enhances stroke code management skills among healthcare professionals in LMICs. Implementing structured, team-based simulation programs can improve acute stroke care and patient outcomes, thereby improving and streamlining workflows.