Neurologist最新文献

Objectives: This study aims to identify retinal biomarkers of NOTCH3 mutation carriers using optical coherence tomography (OCT) data from the UK Biobank.

Methods: We conducted a cross-sectional, matched case-control study of individuals with or without NOTCH3 mutation from the UK Biobank between 2006 and 2010. All participants had macular OCT scan and cognitive assessment. Cases were identified based on pathogenic/likely pathogenic NOTCH3 mutations and 1:1 matched with controls based on age, sex, hypertension, diabetes mellitus, and cigarette smoking status. Baseline characteristics and cognitive test scores were compared using χ2 or Mann-Whitney U test appropriately. Macular thickness at central, inner, and outer subfields and at each retinal layer was compared using Wilcoxon signed-rank test.

Results: Our analysis included 134 participants (67 cases, 67 controls) with a mean age of 54 ± 9 years. NOCTH3 mutation carriers performed worse in prospective memory (P=0.043), verbal and numerical reasoning (P=0.178), visual memory (P=0.227), and processing speed (P=0.101) than matched controls. There were no differences in visual acuity between the 2 groups. NOTCH3 mutation carriers had significantly thinner macular inner subfield at the superior (P=0.006), temporal (P=0.008), and nasal (P=0.034) quadrants, and significantly thinner macular RNFL (P=0.008) compared with age-, sex-, and vascular risk factor-matched controls.

Conclusion: The presence of NOTCH3 mutation is associated with reduced thickness in the inner macular subfield and macular RFNL. These retinal changes may reflect early pericyte dysfunction and microvascular ischemia. Longitudinal studies are needed to assess the temporal relationship between these retinal changes, cerebrovascular disease progression, and clinical severity of disease.

Intracranial atherosclerotic stenosis (ICAS) is one of the most common causes of ischemic stroke worldwide, and endovascular treatment is the primary therapeutic approach, but the clinical recanalization rate is low. Clinical practice has revealed the occurrence of an angioplasty effect following endovascular treatment, which may explain the low recanalization rate. Four patients with ICAS who underwent endovascular therapy were included in this retrospective case series. Demographic, medical histories, treatment, and outcome data were extracted. After undergoing stent-retriever thrombectomy, patients were monitored to assess whether the stenosis showed transient improvement only. The blood flow was observed for 10 to 30 minutes by digital subtraction angiography (DSA), and stent implantation was considered. Clinical data were collected on 4 patients with ICAS who received endovascular treatment. Therefore, we propose the angioplasty effect of stent-retriever thrombectomy, which holds significant value in guiding endovascular treatment.

Objectives: To develop an accurate and easy-to-use predictive tool of short-term functional outcome for ischemic stroke patients treated with thrombolysis in the rural setting.

Methods: This multicenter retrospective study involved the Southern Illinois Healthcare rural stroke network registry as derivative cohort, and the University of Oklahoma Health Sciences Center stroke database as validation cohort. Demographics, clinical, laboratory, and radiographic data were collected. Short-term outcome at 30 days was divided in good (mRS ≤2) bad (mRS ≥5). A backward logistic regression analysis was developed by clinical significance of the dependent variables and a 5-point predictive score system was developed based on clinical plausibility and practicality. Calibration curve was designed. The score was tested on the validation cohort. P value was set at 0.05 for all statistical analyses.

Results: Of 222 patients included in the derivation cohort, 35 (16%) had poor short-term outcome. In a backward logistic regression model, baseline mRS (OR: 1.511, 95% CI: 1.047-2.182, P=0.02), and NIHSS (OR: 1.136, 95% CI: 1.063-1.214, P<0.01) were independently associated with poor short-term outcome. Age also had a strong trend toward significance (OR: 1.045, 95% CI: 0.995-1.093, P=0.05). Additional variables were re-entered in the final predictive model based on clinical plausibility and practicality. The 5-point predictive score was then created adding one point for each of the following variables: age >75, cardiac disease, baseline mRS >2, NIHSS ≥20, and GFR <40. The c-statistic of the model was 0.79, 95% CI: 0.71-0.87. In the validation cohort of 200 patients, the model performed with a c-statistic of 0.75, 95% CI: 0.64-0.86. Good outcome was predicted with a c-statistic of 0.71, 95% CI: 0.64-0.77 in the derivation cohort, and 0.69, 95% CI: 0.62-0.76 in the validation cohort.

Conclusions: This predictive score is an accurate and easy-to-use tool to help providers in the rural settings facilitate early conversations with stroke patients and their families. Providing rural settings with affordable and accurate prognostic tools is a crucial step in bridging the gap in stroke care between urban and rural settings.

Objectives: The evaluation of papilledema often requires lumbar puncture (LP) to measure opening pressure and analyze cerebrospinal fluid (CSF). However, opening pressure can be reported in different units (eg, cm H2O, mm Hg), and the ordering practices of CSF constituents can vary. This study aims to evaluate the pattern of opening pressure assessment and CSF laboratory ordering practices in patients with papilledema due to idiopathic intracranial hypertension (IIH).

Methods: This was a retrospective review across 3 institutions based in Houston, TX. Information was obtained for patients with optic disc edema suspected of papilledema due to IIH who presented between 2009 and 2024. Patients were included if their records contained an LP procedure note for the evaluation of papilledema. Opening pressure units and CSF constituents were recorded.

Results: A total of 227 charts were included, consisting of 317 opening pressure measurements and 245 cases with at least 1 documented CSF laboratory order. We found that units of measurement for opening pressure were reported as cm H2O (71%), cm (10%), no units (9%), mm H2O (3%), mm Hg (3%), cm CSF (2%), mm (1%), and cm/H2O (1%). Among the CSF samples sent for analysis, 99% included cell count, 97% included glucose, 95% included protein, 75% included culture, and 35% included additional laboratory measures.

Conclusions: Inconsistencies in LP measurement units and CSF laboratory orders may lead to misinterpretation, potentially impacting patient care for those suspected of having papilledema due to IIH. We recommend greater standardization of the assessment of LP results for those undergoing evaluation for papilledema suspected due to IIH.

Introduction: Glutamic acid decarboxylase 65 (GAD65) antibody-associated temporal lobe epilepsy (GAD65-TLE) is a rare form of autoimmune-associated epilepsy characterized by medically refractory seizures and cognitive decline. Diagnosis typically requires antibody testing and clinical correlation, and treatment options include immunotherapy and antiseizure medications (ASMs). However, many patients experience persistent or worsening symptoms despite ongoing treatment.

Case report: A 20-year-old woman presented with mild cognitive impairment and focal aware seizures that gradually progressed in frequency and severity. A diagnostic workup revealed GAD65-TLE, and the patient began treatment with intravenous methylprednisolone infusions and antiseizure medications within 6 months of her presentation. After 20 months of treatment, the patient was on stable doses of levetiracetam and lamotrigine and finished tapering immunosuppressive therapy with methylprednisolone. The frequency of her focal aware seizures significantly decreased, whereas the focal impaired aware and focal bilateral tonic-clonic seizures resolved. The patient was able to return to all of her previous daily activities.

Conclusions: In patients presenting with new-onset seizures characterized by unusual semiology and frequent focal aware seizures, it is crucial to consider GAD65-TLE in the list of potential diagnoses. Delayed diagnosis may lead to resistance to both ASMs and immunotherapy. This case report emphasizes how prompt identification and early initiation of immunotherapy can significantly impact the course of the disease.

Objectives: Cervical artery dissection (CeAD) is an important cause of ischemic stroke in young adults. Nearly 100 million annual chiropractic cervical manipulations are performed in the United States. The relationship between manipulation and CeAD remains controversial.

Methods: We analyzed patients in the multicenter STOP-CAD registry (n=4023) to identify CeAD cases diagnosed after chiropractic cervical manipulation. Demographics and clinical features were compared between manipulation-associated and nonmanipulation-associated cases using χ2 and t tests. Multivariable logistic regression identified key factors associated with manipulation-related CeAD.

Results: About 1 in 20 CeAD cases in this registry reported antecedent cervical manipulation. In multivariable binary logistic regression, compared with patients without prior manipulation, those with prior manipulation were younger (OR per year 0.98, 95% CI: 0.97-0.99, P=0.014), more often female (OR: 1.64, 95% CI: 1.21-2.23, P=0.001), less often diabetic (OR: 0.24, 95% CI: 0.08-0.78, P=0.018), presented with neck pain (OR: 2.80, 95% CI: 2.08-3.77, P<0.001), and had higher odds of isolated vertebral artery dissection (OR: 2.15, 95% CI: 1.57-2.94, P<0.001). Recurrent ischemic stroke rates were similar between groups.

Conclusions: Given the very high number of manipulations performed annually, the absolute risk of secondary CeAD is extremely low. Manipulation-associated cases have distinct clinical features, occurring more often in younger women with vertebral dissections. Whether manipulation acts as a precipitating trigger or patients with early CeAD symptoms seek manipulation remains unresolved.

Background: Various artificial intelligence-based medical technologies have been used for diagnosing and treating diseases. Although moyamoya disease (MMD) poses a significant threat to the lives of patients, artificial intelligence (AI) use in MMD is still limited.

Review summary: This study aims to review the literature on predicting, diagnosing, and treating MMD with AI, as well as to discuss its current status, challenges, and future directions. Using AI in treating MMD can enhance diagnostic accuracy and treatment outcomes. AI-driven imaging analysis aids in the early detection of vascular abnormalities linked to MMD, facilitating timely intervention and management. In addition, machine learning (ML) algorithms can analyze large data sets from clinical trials and patient records to identify patterns and predict outcomes, informing personalized treatment plans.

Conclusions: AI has shown great potential in the diagnosis and treatment of MMD. The application of AI in treating MMD represents a promising frontier that may revolutionize clinical practices.

Introduction: Myasthenic crisis (MC) is the most serious manifestation of myasthenia gravis (MG) and it poses a big challenge in clinical management. Plasma exchange and intravenous immunoglobulin are the first-line therapy for MC, but a subset of patients exhibit poor response. Recently, neonatal Fc receptor (FcRn) inhibitors and complement inhibitors showed great efficacy in MC. However, there is no report on whether eculizumab can serve as a rescue therapy for patients who have not responded to efgartigimod.

Case report: This case report describes a Chinese patient with generalized MG who experienced an acute exacerbation and suffered from MC. Despite poor responsiveness to efgartigimod, the patient was successfully rescued with eculizumab. Under regular treatment with eculizumab once every 2 weeks, the patient achieved a status of minimal symptom expression. However, the efficacy of eculizumab in MC has yet to be confirmed through more clinical trials.

Conclusions: This case report hints the potential of complement inhibitors as viable treatments alternative for MC patients who poorly respond to antibody-clearing therapy. Besides, further research is necessary to determine the preferred or suitable treatment option for specific patients.

Objectives: Hypertension (HBP) is a risk factor for the development of motor and cognitive functions in Parkinson disease (PD) patients, but the specific mechanism is unclear. This study investigated white matter structural network abnormalities and their mediation effect of cognitive decline in patients with PD and HBP.

Methods: PD patients with HBP and normal blood pressure (HBP and non-HBP) underwent conventional and multi-shell diffusion magnetic resonance imaging (MRI) at baseline. Cognitive function was evaluated using the Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) at baseline and 12-month follow-up. Enlarged perivascular spaces (EPVS) in the basal ganglia and midbrain were assessed at baseline. White matter structural network based on the diffusion MRI was constructed. The mediation effect and correlations of EPVS and the network metrics with cognitive function were analyzed.

Results: At 12-month follow-up, the cognitive decline was found in the HBP group. Global connectivity was impaired in the HBP group. The number and maximum diameter of EPVS were higher in the HBP group. The nodal connectivity was impaired in the HBP group and associated with the cognitive function at baseline and follow-up. Both global and nodal network metrics, as well as the counts of EPVS mediated the effect of HBP on the cognitive decline.

Conclusions: The PD patients with HBP had worse cognitive function. Hypertensive impairment of white matter connectivity may be the underlying mechanism of cognitive decline in PD patients.

Introduction: Pulmonary arteriovenous malformations (PAVMs) are infrequently associated with ischemic stroke. PAVMs rarely cause large vessel occlusions (LVO), whereas medium (MeVOs) and distal vessel occlusions (DVOs) are more common. Isolated PAVMs are uncommon but may cause paradoxical embolisms.

Case reports: We describe 2 clinical cases of patients with ischemic stroke associated with PAVMs. One patient suffered a stroke caused by a MeVO and was successfully treated with intravenous thrombolysis (IVT). Transcranial Doppler ultrasound (TCD) with bubble test revealed a right-to-left shunt, but transesophageal echocardiography (TEE) ruled out a patent foramen ovale (PFO) in both patients. The presence of PAVMs was confirmed by pulmonary computed tomography angiography (CTPA), and they were successfully treated with embolization. The patients received antiplatelet therapy for secondary prevention, and no recurrence of ischemic events occurred during the follow-up period (12 mo for case 1 and 24 mo for case 2).

Conclusions: Pulmonary arteriovenous malformations are rarely associated with ischemic stroke. Embolization is considered the treatment of choice for these patients. After the procedure, antiplatelet therapy is generally recommended, although anticoagulation may be indicated in selected patients.