搜索结果：neurologist

Accurate diagnosis of lacunar stroke in the acute setting is challenging and often depends on MRI or clinical suspicion. CT perfusion (CTP) has only modest diagnostic accuracy and substantial interobserver variability yet is widely available. Artificial intelligence (AI) based tools may therefore be a valuable decision-support aid to improve the reliability of CTP interpretation. We conducted a retrospective diagnostic accuracy study comparing a novel automated deep learning model with expert stroke neurologists for the diagnosis of acute lacunar stroke on CTP. Adults presenting to two comprehensive stroke centers in New South Wales, Australia, with a clinical syndrome suspicious for lacunar stroke who underwent standard-of-care CTP and diffusion-weighted MRI (DWI) were included. The reference standard was the presence of a clinically relevant lacunar infarct on DWI. A predetermined 90% of cases were used to train and internally test a convolutional neural network to predict the presence of a DWI lesion, while the remaining 10% formed a held out validation dataset. These held-out cases were interpreted by stroke neurologists, blinded to DWI, and by the trained model. Accuracy metrics, including area under the receiver operating characteristic curve (AUC), sensitivity, and specificity, were calculated for individual neurologists, neurologist consensus, and the AI model. Among 485 eligible patients, 436 (239 lacunar strokes and 197 mimics) were used for model development. The remaining 49 patients (27 lacunar strokes, 22 mimics) comprised the held out validation dataset. Overall clinician accuracy was poor (mean AUC 0.58) with low interobserver agreement (Fleiss κ = 0.22). The best-performing AI model, using cerebral blood flow maps alone, outperformed neurologist consensus (AUC 0.82, p = 0.003). In patients with suspected acute lacunar stroke, a deep learning model applied to routinely acquired CTP demonstrated diagnostic accuracy comparable to or better than expert stroke neurologists. These findings support further prospective and external validation and exploration of the model as a decision support tool within acute stroke workflows.

In low- and middle-income country settings, effective post-stroke self-care depends not only on medical management but also on how recurrence risk, long-term management, and rehabilitation are communicated within resource-constrained settings. This study explored how neurologists, stroke survivors, and caregivers conceptualize and negotiate post-stroke self-care, focusing on communication gaps, health literacy, and structural constraints influencing self-management practices. A qualitative study using an interpretive descriptive approach was conducted at a tertiary neurosciences center in Bengaluru, India. In-depth interviews were undertaken with 25 stroke survivors, 25 caregivers, and 3 neurologists (n = 53). Interview guides were informed by risk communication concepts, WHO Self-Care Framework and Taxonomy of Everyday Self-Management Strategies. Reflexive thematic analysis examined how post-stroke self-care, recurrence risk, and long-term preventive care were interpreted and negotiated within routine outpatient settings. Three interrelated themes emerged: divergent understandings of post-stroke self-care, communication gaps and contextual barriers, and enabling mechanisms for sustained self-management. Neurologists framed self-care primarily in biomedical terms, emphasizing medication adherence, risk-factor control, and follow-up monitoring. In contrast, survivors perceived recovery as symptom improvement and functional independence, leading to diminished perceived need for sustained preventive care. Divergences indicated gaps in recurrence-risk communication, reinforcement of long-term adherence, and integration of psychosocial counseling. Financial hardship, limited insurance coverage, and low health literacy constrained treatment and follow-up. Caregivers reported limited structured education and relied on informal or digital sources to supplement information. In resource-constrained settings, sustained post-stroke self-care depends not only on biomedical advice, but also on how recurrence risk, long-term adherence, and preventive responsibility are understood, reinforced, and negotiated during follow-up care. The findings support embedding structured risk communication, and caregiver-inclusive counseling within routine stroke follow-up. System-level strategies such as standardized discharge counseling protocols and task-sharing with trained support staff may strengthen continuity of care, and long-term outcomes in post-stroke self-care.

Chat Generative Pre-trained Transformer (ChatGPT) is increasingly used for medical education and healthcare counseling. To evaluate the reliability, quality, usefulness, and readability of ChatGPT-4o responses to professional medical quizzes and patient frequently asked questions (FAQs) about Parkinson's disease (PD). Twenty-two quizzes were put into ChatGPT-4o and also given to two neurologists. ChatGPT answers to 20 FAQs were analyzed by three neurologists using the modified Discern score, the Global Quality score, and the Usefulness score. Text readability was assessed using the Flesch-Kincaid Reading Grade Level, the Flesch Reading Ease Score, and the Simple Measure of Gobbledygook. The agreement between the neurologists and ChatGPT was fair. The  answers to the FAQs were of good quality, but unreliable and difficult to read. ChatGPT may be an additional valid tool for professional medical education. The quality of the answers to the FAQs is good, but the text is aimed primarily at highly educated individuals. The readability and reliability of the output would likely improve by providing the chatbot with specific prompts.

Headache, dizziness and vertigo are non-specific but frequently reported symptoms in patients with hypertension. When evaluating headache, clinicians must systematically exclude primary headache disorders - such as migraine, tension-type headache and trigeminal autonomic cephalalgias - before attributing symptoms to hypertension. If a primary headache is suspected, referral to a neurologist is essential for specialized management. Hypertension-related headache must fulfil specific diagnostic criteria, including a high blood pressure level (≥180/120mmHg), a demonstrated causal relationship through temporal association and symptom relief following antihypertensive treatment. Whereas severe hypertension combined with headache (e.g. malignant or accelerated hypertension, grade 3 or 4 hypertensive retinopathy) requires urgent attention, the long-term prognosis of patients with recurrent symptoms does not appear to be negatively impacted. Dizziness, often described as lightheadedness, unsteadiness or a floating sensation, must be distinguished from vertigo, which is characterized by an illusion of movement, typically rotatory. In patients with hypertension, vertigo necessitates a thorough evaluation to rule out neurological and vestibular aetiologies, in collaboration with neurologists and ear, nose and throat specialists. These patients require meticulous blood pressure monitoring because of their increased risk of cardiovascular death, particularly from stroke.

Joubert syndrome (JS) is a rare, predominantly autosomal recessive neurodevelopmental disorder characterized by hypotonia, motor delay, intellectual disability, oculomotor apraxia, and the hallmark "molar tooth sign" on axial view of MRI. JS is genetically heterogeneous, with pathogenic variants identified in more than 40 genes involved in primary cilia function. Among these, CEP290 is one of the most frequently mutated genes. In this study, we investigated two children-an 11-year-old boy (the proband) and his 5-year-old sister-both presenting with a similar phenotype consistent with JS. The parents, who self-identified as Chechen, reported distant consanguinity. The family also included a healthy 13-year-old daughter. The proband had previously been evaluated by a neurologist and underwent whole-genome sequencing (WGS); however, no causative variants were identified initially. After phenotype reassessment by a clinical geneticist, we performed a reanalysis of the raw WGS data and identified a novel homozygous intronic variant of uncertain significance (VUS), c.1910-15_1910-11delinsTTACA in CEP290 (NM_025114.4). Sanger sequencing confirmed that both the proband and his affected sister were homozygous for this variant, which they inherited from their heterozygous parents. Their healthy sister did not carry the variant. mRNA-sequencing and targeted cDNA sequencing (read depth ~ 100,000x) demonstrated that this intronic variant causes completely aberrant splicing of CEP290 pre-mRNA. Predominantly this variant causes the skipping of exon 20 in the main CEP290 transcript. Alternatively, the variant results in partial inclusion of intron 19 into the mRNA, elongation of exon 20 by 58 nucleotides, and a homozygous substitution chr12:88114573 (ACTGTGTA> TTACAGTA). No canonical mRNA isoform was detected when the variant was homozygous. Both the predicted severe truncation and the likely degradation of aberrant transcripts through nonsense-mediated decay (NMD) would correspond to complete loss of CEP290 function. Following the reclassification of this VUS to likely pathogenic, the family was able to pursue in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disorders (PGT-M). Our study highlights the critical importance of proper phenotyping prior to referral for WES/WGS as well as of combining NGS with functional mRNA studies to achieve a molecular diagnosis for patients with predicted splice-site mutations in JS-associated genes. It also emphasizes the need for functional reassessment of VUS when genomic data are expected to guide reproductive decision-making within affected families.

This article provides an overview of the principles of stroke prevention, including the distinctions among primordial, primary, secondary, and tertiary prevention. The relationship between stroke prevention and preservation of brain health is considered, and recent guidelines for primary stroke prevention are emphasized. The current standard for the reduction in risk of stroke focuses on public-facing educational tools and clinical risk prediction algorithms that incorporate demographic, lifestyle, and health factors. Newly developed and validated prediction algorithms include social determinants of health, remove racial biases, and include cardiometabolic and kidney disease. Secondary stroke prevention increasingly accounts for presumed causal mechanisms of stroke while managing risk factors. Long-term monitoring for atrial fibrillation, remote patient monitoring of blood pressure, and increased use of glucagon peptide-like protein-1 receptor agonists are recent developments that may reduce disparities in risk. Vascular risk factor control before and after stroke may help mitigate cognitive decline and dementia by preserving brain health. Social and environmental determinants, or drivers, of health are increasingly recognized contributors to stroke risk, and they may be amenable to policy and population solutions. Primary stroke prevention usually falls to the primary care physician, but neurologists may be involved as well, particularly for patients who present for other reasons or who are incidentally discovered to have cerebral infarcts in the course of evaluation for other conditions. Efforts to prevent stroke will also improve brain health more broadly, including reducing risk of cognitive decline, dementia, and late-life depression.

Lumbar laminectomy is routinely performed for neurogenic claudication and radicular pain from lumbosacral stenosis. Restless legs syndrome (RLS) causes nocturnal discomfort with sleep disruption and can coexist with lumbosacral radiculopathy. We evaluated whether laminectomy in patients with neurologist-diagnosed RLS and imaging-confirmed root compression is associated with RLS symptom resolution. We performed a retrospective 1:1 propensity-matched cohort study (158 laminectomy, 158 nonoperative) with a prospectively assessed subset. The primary outcome was complete RLS resolution, defined as symptom absence and discontinuation of RLS pharmacotherapy. Secondary outcomes included International Restless Legs Scale (IRLS) scores, levodopa equivalent daily dose, Oswestry Disability Index, and pain recurrence in the surgical cohort. Complete RLS resolution occurred in 74% of surgical patients vs 23% of nonsurgical patients (risk ratio 3.16; P < .001). In the prospectively assessed subset, baseline IRLS was similar (25.0 &#xb1; 6.2 vs 24.0 &#xb1; 7.1), but follow-up scores were lower after laminectomy (6.0 &#xb1; 7.3 vs 17.0 &#xb1; 8.1; P < .001). A total of 78% vs 35% achieved &#x2265;50% IRLS reduction. Levodopa equivalent daily dose decreased in surgical patients (140.0 &#xb1; 40.5 to 25.0 &#xb1; 45.8 mg/day) but increased in nonoperative patients (145.0 &#xb1; 45.7-153.0 &#xb1; 87.1 mg/day; P < .001). A total of 70% vs 24% discontinued dopaminergic therapy. Oswestry Disability Index improved more after laminectomy (mean change -13.6 &#xb1; 18.1 vs -5.9 &#xb1; 16.7; P < .001). Pain recurred in 29.1% of surgical patients. Lack of RLS resolution was associated with higher pain recurrence risk (hazard ratio 2.06; 95% CI 1.13-3.77). In patients with RLS and lumbosacral root compression, laminectomy was associated with improvements in RLS symptoms, decreased medication burden, and durability of pain relief, in addition to its conventional analgesic benefits. RLS symptom burden may represent an under-recognized dimension of outcome in spine surgery and supports routine RLS assessment when considering decompression.

To ensure Alzheimer's disease-modifying treatments can be initiated in diverse populations, efficient pathways to obtain timely diagnoses are required. This interim sub-analysis of a multicenter US study included cross-sectional surveys and interviews with neurologists at 12 diverse sites to assess real-world lecanemab use. At survey completion, &#x223c;1342 patients had received lecanemab. Most referrals originated from primary care. Amyloid pathology was confirmed primarily by positron emission tomography (58%) or cerebrospinal fluid (35%), with blood-based biomarkers (BBMs) increasingly used to reduce diagnostic delays. All sites performed apolipoprotein E4 (APOE &#x3b5;4) testing to inform risk/benefit decisions. Infusions usually started within 6 months of diagnosis. Delayed/incomplete referrals were identified as the most significant barrier in the current patient pathway. These findings demonstrate the feasibility of lecanemab integration in diverse clinical settings and highlight the importance of primary care physician engagement, optimization of referral pathways, and expanding BBM use in improving timely diagnosis, equitable access, and early treatment initiation.

Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia and a leading preventable cause of ischaemic stroke, with rising prevalence and substantial healthcare burden worldwide. While cardiologists traditionally lead AF management, neurologists play a pivotal role given their expertise in diagnosing stroke, managing its secondary prevention and assessing the risk-benefit of anticoagulation. In this narrative review, we summarise recent advances in AF management and their implications for neurology practice, underscoring the importance of proactive and collaborative management to reduce the burden of AF-related stroke.

Older Veterans receive care through the Department of Veterans Affairs (VA) and Medicare, including Medicare Advantage (MA). We assessed the extent to which a dementia diagnosis recorded in one system is reflected in the other and factors associated with discordance among dual users. Parallel cohort study of patients with dementia identified in the VA or Medicare, both overall and separated into traditional Medicare (TM) and MA. Patients aged 65 years or older enrolled in VA and Medicare with a 2018 face-to-face dementia diagnosis encounter in the VA (N=68,092; VA dementia cohort) or Medicare (N=76,622; Medicare dementia cohort). In both cohorts, our primary outcome was whether the dementia diagnosis was absent at each professional encounter in the other system during 1-year follow-up. Characteristics considered included patient sex, age, race, ethnicity, rurality, priority group, dementia type, and clinician specialty during follow-up. For VA and Medicare cohorts, dementia diagnosis was absent in 88.7% and 80.5%, respectively, of follow-up encounters in the other system. For the VA cohort, the diagnosis was absent in 89.2% and 71.8% of TM and MA encounters, respectively. Encounters with a psychiatrist or neurologist (vs. primary care physician) were linked to lower absence during follow-up (eg, 25.3 and 20.3 percentage points lower for the VA cohort during Medicare follow-up; P<0.001 for both); those in TM (vs. MA) were 14.5 percentage points more likely to have an absent diagnosis. Absent dementia diagnoses across VA and Medicare among dual users was common, associated with clinician specialty and Medicare type.

Idiopathic inflammatory myopathies represent a group of acquired and treatable myopathies characterized by distinct clinical features that should be distinguished from other neuromuscular diseases presenting with proximal muscle weakness or serum creatine kinase elevation. The approach to neuromuscular disorders requires a comprehensive evaluation of history and clinical phenotype. Depending on the presentation, diagnostic strategies vary from basic laboratory tests to complementary electrophysiological studies, muscle imaging, histopathology, and genomic tests. Since the approach to individualized treatments varies according to the accurate diagnosis, a close collaboration between pediatric neurologists and rheumatologists is crucial for the management and follow-up. This review aims to provide a structured diagnostic approach to pediatric myositis mimics, emphasizing the importance of accurate differential diagnosis and highlighting frequently overlooked conditions to improve clinical outcomes.

MRI-guided focused ultrasound (MRgFUS) thalamotomy is used to treat tremors. Identifying the correct area to ablate relies on subjective physician assessment of tremor improvement during treatment. To address this limitation, objective quantification of tremor severity during MRgFUS is needed. The aim of this study was to develop and evaluate an objective method for quantifying tremor progression during MRgFUS using an MRI-compatible accelerometer and tablet. Forty patients (30 male, mean age 74.5 years) who underwent MRgFUS thalamotomy to treat tremor were included in this analysis. All patients were evaluated during the procedure using analysis of drawn Archimedean spirals and a pen-mounted accelerometer. The severity of the tremor was determined by analysis of the rhythmic oscillatory patterns present in the drawings and accelerometer recordings after each sonication delivered. The patient's drawings were evaluated by two movement disorder neurologists using the drawing subsection of The Essential Tremor Rating Assessment Scale (TETRAS), and subsequently compared with the TETRAS score. Using these methods, the mean &#xb1; standard error of the improvements in tremor after MRgFUS thalamotomy was 63.6% &#xb1; 7% by accelerometer analysis, 72.4% &#xb1; 9.9% by written spiral analysis, 68% &#xb1; 6.7% by combining the accelerometer and written spiral analyses, and 33.6% &#xb1; 3.1% by TETRAS analysis. When stratifying based on temperature, improvement was 22.8% &#xb1; 4.4% at < 50&#xb0;C, 48.9% &#xb1; 5.5% at 50&#xb0;C-53&#xb0;C, and 70.8% &#xb1; 2.9% at > 53&#xb0;C. The measurements from the accelerometer and written spiral analysis were comparable with expert analysis of TETRAS scores, but the accelerometer had greater sensitivity for subtle improvement in tremor. This system of analysis provides an objective and instantaneous measure of tremor improvement during MRgFUS, potentially making the procedure safer and more efficient.

Women frequently present with chronic bodily pain, gastritis, dizziness, fatigue, anxiety, panic symptoms, sleep disturbances, and other persistent physical complaints despite repeated investigations and treatment. Many consult multiple specialists, including physicians, neurologists, gastroenterologists, and gynecologists, before eventually reaching psychiatric services. In some women, hidden emotional distress, dissatisfaction within relationships, emotional loneliness, reduced emotional and physical intimacy, and unresolved psychosexual concerns may contribute significantly to persistent psychosomatic suffering. We describe five married women from diverse sociocultural and religious backgrounds who continued to experience chronic physical symptoms despite repeated medical consultations and largely unremarkable investigations. Most patients initially focused solely on bodily complaints, including body pain, gastritis, dizziness, fatigue, panic symptoms, anxiety, and disturbed sleep. They found it difficult to openly discuss emotional stress, marital dissatisfaction, loneliness, or intimacy-related concerns because of shame, guilt, fear of conflict, dependency, and social pressure. All patients underwent detailed psychiatric assessments, developmental and marital history-taking, supportive interviewing, and couple-based discussions led jointly by male and female psychiatrists. During extended clinical sessions, deeper emotional struggles gradually became clear. Several women described years of feeling emotionally neglected, unheard, disconnected, or dissatisfied in their relationships. Many also struggled to express emotional and sexual needs openly despite significant emotional suffering. In several cases, psychosomatic symptoms worsened during periods of loneliness, emotional conflict, rejection, or impaired communication within marriage. We treated patients with supportive psychotherapy, emotional communication work, psychoeducation, stress-management techniques, couple counseling, sex education, and symptom-targeted medications. During follow-up visits, most patients reported improvement in psychosomatic symptoms, anxiety, sleep, emotional communication, marital functioning, and overall emotional well-being. This case series explored whether hidden emotional and intimacy-related distress may represent possible contributing factors in chronic psychosomatic symptom experiences among some women within specific marital and sociocultural contexts.

This article reviews distinct acquired and congenital etiologies, age-specific and sex-specific risks, and lifelong implications of cerebrovascular conditions in children and young adults. Stroke incidence is rising among younger adults. An increased burden of vascular risk factors, particularly in adults older than 35 years, may play a role, as well as a confluence of underlying predisposing nonatherosclerotic risks and inciting triggers. New data and American Heart Association/American Stroke Association scientific statements are informing antithrombotic management in the setting of cervical artery dissection and cerebral venous thrombosis. Young people with chronic conditions affecting cerebrovascular health, including moyamoya arteriopathy, sickle cell disease, and congenital heart disease, may face accumulating and modulating risks for stroke as they age. Facilitating access to follow-up with specialized multidisciplinary care is important in optimally managing these complex diseases. Stroke in young patients can result from nonatherosclerotic mechanisms such as dissection, arteriopathies, cardiac shunts, or systemic disease. Conventional vascular risk factors play a larger role in stroke risk in patients older than 35 years. Chronic conditions such as sickle cell disease, congenital heart disease, and moyamoya arteriopathy require lifelong cerebrovascular surveillance and individualized risk reduction strategies. Sex-specific factors, including menstruation, contraception, and pregnancy, can complicate management and amplify risks in younger patients, underscoring the need to promote awareness among neurologists who treat cerebrovascular disease in these individuals.

Ebola virus disease (EVD) causes multiorgan damage and is highly fatal. EVD's neurological impact among survivors remains poorly characterized due to limited neurological assessment capabilities in the remote regions where most outbreaks occur. To characterize neurological sequelae in EVD survivors over more than 7 years' longitudinal follow-up. Under the Ebola Natural History Study (PREVAIL III; PIII), the Neurology Study of PIII was a prospective longitudinal cohort study in Liberia of adult Ebola survivors and control individuals conducted from September 2015 to March 2023 at the Partnership for Research on Vaccines and Infectious Diseases in Liberia (PREVAIL) site at John F. Kennedy Medical Center in Monrovia, Liberia. Data were analyzed from April 2023 to September 2025. Neurological evaluations were performed by trained neurologists biannually. Questionnaire and neurological examination data were collected on case report forms. Neurological symptom prevalence and neurological examination scores were compared to those of control individuals. Tests for differences between survivors and control individuals were conducted using generalized linear mixed-effects models controlling for age and sex. Overdispersed Poisson models were used to test for computed neurological examination score differences. Neurological examination scores were developed for this study, representing the cumulative abnormalities on neurological examinations, denoted on standardized case report forms, with the general neurological examination score representing all examination abnormalities and the central nervous system score representing the central nervous system-specific abnormalities on examination. Analysis after serologic testing included 148 Ebola antibody-positive survivors (mean [SD] age, 34.8 [10.5] years; 74 [50%] female) and 81 antibody-negative contacts (mean [SD] age, 35.8 [12.6] years; 41 [51%] female). During acute infection, survivors reported headaches, altered mental status, and strokelike symptoms or meningoencephalitis (rarely). Survivors had significant neurological sequelae involving the entire neuraxis: cognitive dysfunction (83 [56.1%]), persistent headaches (98 [66.2%]), sleep abnormalities (40 [27.0%]), depression (73 [49.3%]), sexual dysfunction (48 [32.4%]), tremor (18 [20.3%]), fatigue (71 [51.1%]), cranial nerve abnormalities (60 [40.5%]), and sensory abnormalities (45 [30.4%]). Over 7 years' follow-up, most survivors demonstrated improvement in neurological status. The final visit included 115 survivors (77.7%) and 61 close contacts (75.3%). Persistent symptoms at final evaluation in survivors compared to contacts were memory loss (66 [57.4%] vs 16 [26.2%], respectively; P&#x2009;<&#x2009;.001), irritability (42 [36.5%] vs 9 [14.8%], respectively; P&#x2009;=&#x2009;.006), and trouble concentrating (34 [29.6%] vs 6 [9.8%], respectively; P&#x2009;=&#x2009;.002). The findings indicate that Ebola virus infection is associated with neurological complications in survivors, with increased health care burden and socioeconomic consequences. These neurological issues generally improved with time, but some persisted long-term. Close neurological follow-up of EVD survivors may be warranted.