BMJ Neurology Open最新文献

Normal pressure hydrocephalus (NPH) represents a unique form of hydrocephalus characterised by the paradox of ventriculomegaly without significant elevations in intracranial pressure, with the clinical triad of gait instability, cognitive impairment, and urinary incontinence. A myriad of neurobiological correlates have been implicated in its pathophysiology. We review the literature to provide an up-to-date, narrative review of the proposed mechanisms underlying the pathophysiology of NPH, proposing a holistic framework through which to understand the condition. We conducted a narrative review of the literature on NPH, assessing the various mechanisms underlying its pathophysiology and clinical presentation. NPH represents a unique form of hydrocephalus manifesting as a disorder of the cerebral vasculature, characterised by arteriosclerosis and reduced intracranial elastance. There are multiple mechanisms underlying its pathophysiology, which include windkessel impairment causing redistribution of intracranial pulsatility from the subarachnoid space to the ventricles, reductions in cerebral blood flow, impaired glymphatic clearance, reduced blood-brain barrier integrity and alterations in venous haemodynamics. Moreover, NPH shares similar clinical features and pathological mechanisms as other neurodegenerative conditions such as Alzheimer's disease and vascular dementia. The severity of each respective mechanism of pathophysiology can lead a patient to develop one condition versus another. Analysing NPH as a disorder of the cerebral vasculature, glymphatics, and most of all, the distribution of intracranial pulsatility, provides a novel framework through which to understand and manage this condition, one which requires further investigation.

Background: Headaches are one of the most common neurological disorders, ranging in severity from mild discomfort to a severe, debilitating condition. Headaches are particularly prevalent among medical students, which can be attributed to various factors such as psychological stressors, extensive studying, long hours of clinical rotations and high-pressure examination. This study aims to ascertain the prevalence of different types of headaches, along with analysing their associated clinical characteristics among medical students in Egypt.

Methods: A multicentric, descriptive questionnaire-based cross-sectional study was conducted across five governmental faculties of medicine in Egypt from November 2022 to March 2023. Using a multistage random sampling method, 600 undergraduate students were selected to participate. Headache was diagnosed based on the International Classification of Headache Disorders.

Results: A total of 493 responses were included in the analysis; the prevalence of headache disorder was 264 (53.5%), with tension-type headaches (TTH) frequent episodic being the highest 89 (33.7%), while TTH chronic and migraine with aura were the least prevalent, accounting for 10 (3.8%) and 31 (11.7%), respectively. Women exhibited a higher overall headache prevalence (69.4%) compared with men (44.4%). A positive family history was found in 120 (45.5%) of students with headache. Lack of sleep and stress were the most frequently reported potential triggers for headaches. Out of 264 medical students, 171 (65%) took analgesics. Only 42 (24.6%) had a medical consultation, while most students 129 (75.4%) took over-the-counter medications.

Conclusion: Notably, headaches were prevalent in 264 (53.5%) of the respondents. TTH frequent and infrequent emerged as the most common headaches among medical students, followed by migraine without aura then migraine with aura. Participants were statistically different according to sex, faculty, academic year and living conditions. Alarmingly, despite the substantial prevalence, only 42 (24.6%) students sought medical consultation.

Background: Paroxysmal sympathetic hyperactivity (PSH) is a condition characterised by dysregulation of the autonomic nervous system commonly associated with severe traumatic brain injury. Recently, non-traumatic causes, such as infections and autoimmune conditions, have also been reported as potential triggers.

Case presentation: A 30-year-old man presented with convulsions following 5 days of soliloquy, insomnia and agitation. Neurosyphilis was diagnosed based on elevated non-treponemal and treponemal test findings in the serum and cerebrospinal fluid. Intravenous penicillin administration improved his alertness; however, by day 9, he experienced recurrent episodes of tachycardia, tachypnoea, hyperthermia, hypertension, limb stiffness and diaphoresis. The exclusion of sepsis, pulmonary embolism and malignant syndrome, combined with unremarkable interictal electroencephalogram findings and a high PSH Assessment Measure Score, led to a PSH diagnosis on day 40. Treatment with propranolol, gabapentin and clonidine resolved the episodes, and the patient regained independent ambulation.

Conclusions: This is the first reported case of neurosyphilis accompanied by PSH. Although PSH is rare in central nervous system infections compared with traumatic brain injury, early recognition is crucial, as untreated cases can persist and result in severe complications.

Background: Functional cognitive disorder (FCD) may be common after a concussion, and no evidence-based treatment options are available. The current study evaluated the feasibility of a novel cognitive-behavioural therapy (CBT) protocol tailored to FCD after concussion.

Methods: Participants were randomised to CBT (n=11) or the current standard of care, cognitive rehabilitation (n=13). Both interventions consisted of eleven 50 min manualised videoconference sessions. CBT involved cognitive reappraisal and exposure-based strategies. Cognitive rehabilitation involved traditional memory compensation strategy training. Prespecified feasibility criteria were set for recruitment, perceived credibility, patient adherence, therapist protocol compliance and retention. The primary efficacy outcome was the Multifactorial Memory Questionnaire-Satisfaction (MMQ-S). The first five CBT completers completed a semistructured interview about their experience with the intervention.

Results: Most feasibility benchmarks were met, as 86% of invited patients consented, 96% of participants rated their intervention as credible, participants attended 96% of sessions, therapists covered all essential content in 94% of sessions and 100% of participants completed the post-treatment evaluation. Both groups improved on the MMQ-S. Post-treatment MMQ-S scores were similar between groups (Cohen's d=-0.05 (95% CI [-0.86, 0.75])). Two themes resulted from the qualitative data analysis, which highlighted aspects of the CBT interventions that participants valued.

Implications: This pilot trial supports the feasibility of CBT tailored to FCD after concussion and suggests that patients with FCD may benefit from either CBT or standard cognitive rehabilitation. A larger trial is needed to evaluate the efficacy of these interventions for FCD after concussion and potentially FCD in other clinical contexts.

Trial registration number: NCT05581810.

Background: The National Institutes of Health Stroke Scale (NIHSS) scores have been used to evaluate acute ischaemic stroke (AIS) severity in clinical settings. Through the International Classification of Diseases, Tenth Revision Code (ICD-10), documentation of NIHSS scores has been made possible for administrative purposes and has since been increasingly adopted in insurance claims. Per Centres for Medicare & Medicaid Services guidelines, the stroke ICD-10 diagnosis code must be documented by the treating physician. Accuracy of the administratively collected NIHSS compared with expert clinical evaluation as documented in the Paul Coverdell registry is however still uncertain.

Methods: Leveraging a linked dataset comprised of the Paul Coverdell National Acute Stroke Program (PCNASP) clinical registry and matched individuals on Medicare Claims data, we sampled patients aged 65 and above admitted for AIS across nine states, from January 2017 to December 2020. We excluded those lacking documentation for either clinical or ICD-10-based NIHSS scores. We then examined score concordance from both databases and measured discordance as the absolute difference between the PCNASP and ICD-10-based NIHSS scores.

Results: Among 87 996 matched patients, mean NIHSS scores for PCNASP and Medicare ICD-10 were 7.19 (95% CI 7.14 to 7.24) and 7.32 (95% CI 7.27 to 7.37), respectively. Concordance between the two scores was high as indicated by an intraclass correlation coefficient of 0.93.

Conclusion: The high concordance between clinical and ICD-10 NIHSS scores highlights the latter's potential as measure of stroke severity derived from structured claims data.

Abstract:

Background: The m.3243A>G variant in mitochondrial DNA (mtDNA) is the most common cause of the MELAS (Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) syndrome usually commencing in childhood or adolescence. In adults, the variant presents with versatile and mostly neurological phenotypes, but MELAS may not be common.

Objective: To examine the frequency of phenotypes in adults with m.3243A>G in a population-based cohort and in a meta-analysis of reported case series.

Methods: We clinically examined 51 adult patients with m.3243A>G to determine the frequency of phenotypes and to analyse the contribution of variant heteroplasmy, age, sex and mtDNA haplogroup to the phenotypes. The frequencies of neurological features were also assessed in a meta-analysis on 25 published case series reporting 1314 patients.

Results: Sensorineural hearing impairment (HI), cognitive impairment and myopathy were the most common manifestations, whereas stroke-like episodes were infrequent. Variant heteroplasmy and age were only modest predictors of the phenotypes, although heteroplasmy correlated significantly with disability and Kaplan-Meier analysis showed progression of phenotypes with age. Male sex predicted more severe disability, whereas haplogroup UK was associated with no significant disability. Meta-analysis revealed substantial heterogeneity of phenotype frequencies and preferential inclusion of the MELAS phenotype.

Discussion: In adult patients with m.3243A>G sensorineural HI, cognitive impairment and myopathy are common manifestations with lifetime prevalences approaching unity. Stroke-like episodes are rare. Variant heteroplasmy, age, sex and mtDNA haplogroup contribute to the severity of the disease. Meta-analysis provided a solid estimate of the various neurological symptoms in adults with m.3243A>G.