Journal of neurology, neurosurgery, and psychiatry
-
J. Neurol. Neurosurg. Psychiatr. · Jul 2022
Clinical impact of whole-genome sequencing in patients with early-onset dementia.
In the clinical setting, identification of the genetic cause in patients with early-onset dementia (EOD) is challenging due to multiple types of genetic tests required to arrive at a diagnosis. Whole-genome sequencing (WGS) has the potential to serve as a single diagnostic platform, due to its superior ability to detect common, rare and structural genetic variation. ⋯ WGS acts as a single genetic test to identify different types of clinically relevant genetic variations in patients with EOD. WGS, if used as a first-line clinical diagnostic test, has the potential to increase the diagnostic yield and reduce time to diagnosis for EOD.
-
J. Neurol. Neurosurg. Psychiatr. · Jul 2022
Thalamic atrophy measured by artificial intelligence in a multicentre clinical routine real-word study is associated with disability progression.
The thalamus is a key grey matter structure, and sensitive marker of neurodegeneration in multiple sclerosis (MS). Previous reports indicated that thalamic volumetry using artificial intelligence (AI) on clinical-quality T2-fluid-attenuated inversion recovery (FLAIR) images alone is fast and reliable. ⋯ Thalamic atrophy measured by AI in a multicentre clinical routine real-word setting is associated with DP over mid-term follow-up.
-
J. Neurol. Neurosurg. Psychiatr. · Jul 2022
Risk of Parkinson's disease in multiple sclerosis and neuromyelitis optica spectrum disorder: a nationwide cohort study in South Korea.
Neurodegeneration is associated with pathogenesis of both multiple sclerosis (MS) and neuromyelitis optica (NMOSD). Parkinson's disease (PD) is a representative neurodegenerative disease, however, whether MS or NMOSD is associated with risk of PD is not known. ⋯ The PD risk was higher in patients with MS and NMOSD compared with healthy controls and was particularly high in patients with MS. Further investigations should be performed to determine the pathophysiology and occurrence of PD in patients with MS and NMOSD.
-
J. Neurol. Neurosurg. Psychiatr. · Jul 2022
Global impact of the COVID-19 pandemic on subarachnoid haemorrhage hospitalisations, aneurysm treatment and in-hospital mortality: 1-year follow-up.
Prior studies indicated a decrease in the incidences of aneurysmal subarachnoid haemorrhage (aSAH) during the early stages of the COVID-19 pandemic. We evaluated differences in the incidence, severity of aSAH presentation, and ruptured aneurysm treatment modality during the first year of the COVID-19 pandemic compared with the preceding year. ⋯ During the first year of the pandemic, there was a decrease in aSAH admissions volume, driven by a decrease in mild to moderate presentation of aSAH. There was an increase in the ruptured aneurysm coiling rate but neither change in the ruptured aneurysm clipping rate nor change in aSAH in-hospital mortality.
-
J. Neurol. Neurosurg. Psychiatr. · Jul 2022
Superior effects of natalizumab versus other DMTs on patient-reported outcomes in people with multiple sclerosis.
Little is known about the comparative effectiveness of multiple sclerosis (MS) disease-modifying therapies (DMTs) on patient-reported outcomes in MS. We compared the effects of natalizumab to other DMTs in relation to MS symptom severity, quality of life, disability, disease progression and employment outcomes using real-world data. ⋯ Natalizumab was associated with superior outcomes over time for many patient-reported health and employment outcomes when compared with other DMTs in this large prospective cohort study. These findings may influence treatment selection in clinical practice and future treatment cost-effectiveness analyses.