Neurology. Clinical practice最新文献

Background and objectives: Sporadic cerebral small vessel disease (CSVD) is a class of important pathologic processes known to affect the aging brain and to contribute to cognitive impairment. We aimed to identify clinical risk factors associated with postmortem CSVD in middle-aged to older adults.

Methods: We developed and tested risk models for their predictive accuracy of a pathologic diagnosis of nonamyloid CSVD and cerebral amyloid angiopathy (CAA) in a retrospective sample of 160 autopsied cases from the Edinburgh Brain Bank. Individuals aged 40 years and older covering the spectrum of healthy aging and common forms of dementia (i.e., highly-prevalent etiologies such as Alzheimer disease (AD), vascular cognitive impairment (VCI), and mixed dementia) were included. We performed binomial logistic regression models using sample splitting and cross-validation methods. Demographics, lifestyle habits, traditional vascular risk factors, chronic medical conditions, APOE4, and cognitive status were assessed as potential predictors.

Results: Forty percent of our sample had a clinical diagnosis of dementia (AD = 33, VCI = 26 and mixed = 5) while others were cognitively healthy (n = 96). The mean age at death was 73.8 (SD 14.1) years, and 40% were female. The presence of none-to-mild vs moderate-to-severe nonamyloid CSVD was predicted by our model with good accuracy (area under the curve [AUC] = 0.84, sensitivity [SEN] = 72%, specificity [SPE] = 95%), with the most significant clinical predictors being age, history of cerebrovascular events, and cognitive impairment. The presence of CAA pathology was also predicted with high accuracy (AUC = 0.86, SEN = 93%, SPE = 79%). Significant predictors included alcohol intake, history of cerebrovascular events, and cognitive impairment. In a subset of atypical dementias (n = 24), our models provided poor predictive performance for both nonamyloid CSVD (AUC = 0.50) and CAA (AUC = 0.43).

Discussion: CSVD pathology can be predicted with high accuracy based on clinical factors in patients within the spectrum of AD, VCI, and normal aging. Whether this prediction can be enhanced by the addition of fluid and neuroimaging biomarkers warrants additional study. Improving our understanding of clinical determinants of vascular brain health may lead to novel strategies in the prevention and treatment of vascular etiologies contributing to cognitive decline.

Classification of evidence: This study provides Class II evidence that selected clinical factors accurately distinguish between middle-aged to older adults with and without cerebrovascular small vessel disease (amyloid and nonamyloid) pathology.

Objectives: CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE) is a rare X-linked dominant genetic disorder. Family-centered Early Intervention (EI) programs, which promote axonal plasticity and synaptic reorganization through exposure to an enriched environment, should be integrated into clinical practice. However, there is presently a dearth of dedicated EI protocols for patients with CDKL5-DEE and cerebral visual impairment (CVI).

Methods: We present a girl with a deletion of the CDKL5 gene (MIM*300203). At the age of 2 months, the child presented with severe epilepsy. The neurologic examination was abnormal, and she had severe CVI. At the first assessment, at 5 months old, her Developmental Quotient (DQ) on the Griffiths Mental Developmental Scales III (GMDS-III) was equivalent to 3-month-old skills (95% CI). The child was enrolled in an EI program for 6 months.

Results: At 12 months of age, the DQ score was 91. There has been improvement in the neurovisual functions. The findings from the scales show a gradual improvement in neuromotor and psychomotor development, which is in contrast to the expected outcome of the disease.

Discussion: The case study shows that a family-centered EI and prompt assessment of CVI can promote and enhance neurodevelopment.

Background and objectives: Dementia presents not only differing neuropsychiatric symptoms (NPS) across Alzheimer disease (AD), frontotemporal dementia (FTD), dementia with Lewy bodies (DLB) but also subjective cognitive decline (SCD). This study examined sex-based variations in NPS severity and progression across these conditions.

Methods: We performed a longitudinal cohort study including 1,068 participants. Hierarchical generalized linear mixed models were used to model NPS as a function of disease severity and biological sex at birth.

Results: Female participants with AD exhibited NPS more frequently than male participants. In FTD, female participants had more frequent delusions, hallucinations, and depression/dysphoria, while male participants had higher instances of agitation/aggression, apathy, disinhibition, and irritability/lability. In DLB, male participants showed higher instances of depression, and female participants more frequently experienced anxiety. In SCD, female participants showed higher nighttime behaviors. The trajectory of NPS significantly differed between sexes.

Discussion: These findings highlight sex-specific NPS impact in different neurodegenerative conditions.

Background and objectives: To provide real-word clinical follow-up data on patients carrying variations of congenital myasthenic syndromes (CMS) and who respond to some innovative drugs.

Methods: Patients recruited from the Neurology Department of the Mustapha Bacha university hospital in Algiers. Treated with innovative drugs, they were monitored and their clinical progress was evaluated on the basis of clinical arguments suggestive of CMSs, but also para clinical arguments (electromyography and genetic study).

Results: Six patients carrying different mutations in different genes of CMSs were studied. They had different pathophysiologic profiles (slow or fast channel syndromes, low expressor of receptor). Their therapeutic management was based on innovative drugs, normally indicated in other, non-neurological pathologies. Their outcome was toward a clear clinical improvement.

Discussion: This work relates the interest of proposing treatments (outside of Pyridostigmine) in the management of CMSs. These therapies can greatly modify the prognosis of patients suffering from this orphan disease.

Classification of evidence: This study provides Class IV evidence that for patients with congenital myasthenic syndromes, some innovative treatments are effective.

Background and objectives: Demand for specialty neurologic care has been steadily increasing over the past several decades, and health systems are needing to meet the demands of their patients while managing a dwindling workforce. This retrospective study investigates the operational impact of a regional neurology clinic staffed by advanced practice providers with remote physician oversight in a "hub and spoke" delivery model to serve lower complexity patients.

Methods: A retrospective, cross-sectional study was conducted to evaluate outcomes. Descriptive analysis of referral volumes, cancellation/no-show rates, and patient complexity as determined by the reason for referral were used to evaluate patients who received referrals from rural counties north of the primary neurology practice before and after the opening of the regional clinic. These metrics were evaluated longitudinally from counties of interest and for differences in patients seen at the regional clinic vs primary neurology practice.

Results: Referral volumes from the northern counties increased at significantly higher rates after the opening of the regional clinic than other counties in the serviced area. This resulted in an increase in patients seen in the hub clinics and spoke clinic. The regional clinic did see patients who were less complex than the primary practice; however, the total volume of low-complexity patients scheduled at the primary practice did not decrease. Cancellation and no-show rates did not seem to be affected in either clinic.

Discussion: The opening of a regional "spoke" clinic resulted in the generation of greater referral volumes that exceeded the capacity created by the clinic. Owing to this, there was an increase in the number of patients seen from the regional counties in the hub clinics, negating the potential benefit of improving access for high-complexity patients. Importance of demand-shaping and appropriate utilization as part of the value equation are discussed, followed by discussion of mitigation strategies.

Background and objective: Physical examination findings in athletes with sport-related concussion (SRC) are not well described in the literature. The objective of this study was to describe physical examination findings during the first month following concussion in athletes, with a focus on the effect of sex, age, and time since injury.

Methods: This was a retrospective electronic medical record (EMR) review of physical examination findings in 500 patients aged 6-24 who were initially seen within 15 days of SRC at a multidisciplinary outpatient academic concussion clinic between 2017 and 2019. A standardized concussion examination built in the EMR recorded mental status, cranial nerve, vestibulo-ocular motor screen, and balance findings for all patients. The primary outcome was the frequency of abnormal examination findings during the first 30 days postinjury, which was further analyzed by sex, age, and time since injury using mixed logistic regression models.

Results: The most common abnormal examination findings overall were eyes-closed single-leg stance, vestibular-ocular reflex, visual motion sensitivity, the neck examination, and eyes-closed tandem stance. Abnormal findings were more frequent in female athletes for vestibular ocular reflex and visual motion sensitivity. The frequency of abnormal findings increased with age for vestibulo-ocular reflex, visual motion sensitivity, the neck examination, convergence testing, and eyes-open single-leg stance, whereas abnormalities decreased in frequency with age for eyes-open tandem stance and tandem gait. The frequency of abnormal findings generally decreased with time over the first 4 weeks following injury.

Discussion: A comprehensive physical examination is pivotal for evaluation of athletes with concussion. These findings highlight high-yield components of the concussion examination and support use of these examination components as injury markers. Future work should investigate associations between physical examination findings and postconcussion symptoms and recovery outcomes.

Classification of evidence: This retrospective cohort study provides Class IV evidence that neurologic examination with specifically designed clinical tests are helpful for diagnosis of traumatic brain injury in young athletes at age 6-24.

Background and objectives: In health care, large language models such as Generative Pretrained Transformers (GPTs), trained on extensive text datasets, have potential applications in reducing health care disparities across regions and populations. Previous software developed for lesion localization has been limited in scope. This study aims to evaluate the capability of GPT-4 for lesion localization based on clinical presentation.

Methods: GPT-4 was prompted using history and neurologic physical examination (H&P) from published cases of acute stroke followed by questions for clinical reasoning with answering for "single or multiple lesions," "side," and "brain region" using Zero-Shot Chain-of-Thought and Text Classification prompting. GPT-4 output on 3 separate trials for each of 46 cases was compared with imaging-based localization.

Results: GPT-4 successfully processed raw text from H&P to generate accurate neuroanatomical localization and detailed clinical reasoning. Performance metrics across trial-based analysis for specificity, sensitivity, precision, and F1-score were 0.87, 0.74, 0.75, and 0.74, respectively, for side; 0.94, 0.85, 0.84, and 0.85, respectively, for brain region. Class labels within the brain region were similarly high for all regions except the cerebellum and were also similar when considering all 3 trials to examine metrics by case. Errors were due to extrinsic causes-inadequate information in the published cases, and intrinsic causes-failures of logic or inadequate knowledge base.

Discussion: This study reveals capabilities of GPT-4 in the localization of acute stroke lesions, showing a potential future role as a clinical tool in neurology.

Purpose of review: This review focuses on the challenges of diagnosing and treating spontaneous intracranial hypotension (SIH), a condition caused by spinal CSF leakage. It emphasizes the need for increased awareness and advocates for early and thoughtful use of empirical epidural blood patches (EBPs) in suspected cases.

Recent findings: SIH diagnosis is hindered by variable symptoms and inconsistent imaging results, including normal brain MRI and unreliable spinal opening pressures. It is crucial to consider SIH in differential diagnoses, especially in patients with connective tissue disorders. Early EBP intervention is shown to improve outcomes.

Summary: SIH remains underdiagnosed and undertreated, requiring heightened awareness and understanding. This review promotes proactive EBP use in managing suspected SIH and calls for continued research to advance diagnostic and treatment methods, emphasizing the need for innovative imaging techniques for accurate diagnosis and timely intervention.

[This corrects the article DOI: 10.1212/CPJ.0000000000200313.].

Background and objectives: Headache is an adverse event associated with the use of proton pump inhibitors (PPIs). Recently, migraine has emerged more specifically as a potential adverse event with PPI use. The objectives of this work were to capitalize on existing data to evaluate the association between migraine and severe headache prevalence and use of acid-suppression therapy, including PPIs, H2 receptor antagonists (H2RAs), and generic antacids; to compare risk from PPIs vs H2RAs; and to assess for potential mitigation by a dietary factor affected by acid-suppression therapy.

Methods: Data from adults in the 1999-2004 National Health and Nutrition Examination Survey were used for this cross-sectional analysis. Acid-suppression therapy use was identified from self-report confirmed by product packaging review. Respondents who endorsed migraine or severe headache in the past 3 months were classified in the migraine or severe headache group. Dietary intake of magnesium was determined using one 24-hour recall interview. Multivariable logistic regression models were generated to analyze the relationship between acid-suppression therapy use and migraine or severe headache, and an interaction test was conducted to evaluate whether migraine or severe headache prevalence differed in relation to nutritional magnesium intake across acid-suppression therapy users and nonusers.

Results: In 11,818 US adults, the use of acid-suppression therapy was associated with higher odds of migraine or severe headache for all types of acid-suppression therapy and use of any type, as compared with those who did not use acid-suppression therapy: use of PPIs (70% higher), H2RAs (40% higher), and generic antacids (30% higher). Differences between acid-suppression therapy were not significant. An interaction was observed for H2RA use and magnesium intake (p = 0.024).

Discussion: These observations in US adults agree with previous findings that migraine or severe headache is a potential adverse event of PPIs, the most efficacious and most frequently used type of acid suppressing medication, and further suggest that other classes of acid suppressing medications (H2RAs and generic antacids) may also be implicated for migraine and severe headache. Future prospective analyses are needed to investigate migraine risk associated with acid suppressing medications while current evidence is sufficient to evaluate patients with migraine in light of recent deprescribing advice for PPIs.