Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Nov 2023
Risk-conferring HLA variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practice.
Whole genome sequencing is increasingly used in healthcare, particularly for diagnostics. However, its clinically multifaceted potential for individually customised diagnostic and therapeutic care remains largely unexploited. We used existing whole genome sequencing data to screen for pharmacogenomic risk factors related to antiseizure medication-induced cutaneous adverse drug reactions (cADRs), such as human leucocyte antigen HLA-B*15:02, HLA-A*31:01 variants. ⋯ Comprehensive utilisation of genetic data spreads beyond the search for causal variants alone and can be extended to additional clinical benefits such as identifying pharmacogenomic biomarkers, which can guide pharmacotherapy for genetically-susceptible individuals.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2023
ReviewAxonal degeneration in chemotherapy-induced peripheral neurotoxicity: clinical and experimental evidence.
Multiple pathological mechanisms are involved in the development of chemotherapy-induced peripheral neurotoxicity (CIPN). Recent work has provided insights into the molecular mechanisms underlying chemotherapy-induced axonal degeneration. ⋯ We identify potential clinical markers of axonal dysfunction to provide early identification of toxicity as well as present potential treatment strategies to intervene in axonal degeneration pathways. A greater understanding of axonal degeneration processes in CIPN will provide important information regarding the development and progression of axonal dysfunction more broadly and will hopefully assist in the development of successful interventions for CIPN and other neurodegenerative disorders.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2023
Predictors of persistent postural-perceptual dizziness (PPPD) and similar forms of chronic dizziness precipitated by peripheral vestibular disorders: a systematic review.
The literature on predictors of persistent postural-perceptual dizziness (PPPD) following peripheral vestibular insults has not been systematically reviewed. ⋯ After acute vestibular events, psychological and behavioural responses and brain maladaptation are the most likely predictors of PPPD, rather than the severity of changes on vestibular testing. Age-related brain changes appear to have a smaller role and require further study. Premorbid psychiatric comorbidities, other than dependent personality traits, are not relevant for the development of PPPD.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2023
Visual function resists early neurodegeneration in the visual system in primary progressive multiple sclerosis.
Neurodegeneration in multiple sclerosis (MS) affects the visual system but dynamics and pathomechanisms over several years especially in primary progressive MS (PPMS) are not fully understood. ⋯ Whereas neurodegeneration in the anterior visual system is already present at onset, visual function is not impaired until a certain turning point. sNfL is not correlated with structural or functional impairment in the visual system.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2023
Multicenter StudyLong-term outcomes of mesial temporal laser interstitial thermal therapy for drug-resistant epilepsy and subsequent surgery for seizure recurrence: a multi-centre cohort study.
Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) is a minimally invasive alternative to surgical resection for drug-resistant mesial temporal lobe epilepsy (mTLE). Reported rates of seizure freedom are variable and long-term durability is largely unproven. Anterior temporal lobectomy (ATL) remains an option for patients with MRgLITT treatment failure. However, the safety and efficacy of this staged strategy is unknown. ⋯ MRgLITT is a viable treatment with durable outcomes for patients with drug-resistant mTLE evaluated at a comprehensive epilepsy centre. Although seizure freedom rates were lower than reported with ATL, this series represents the early experience of each centre and a heterogeneous cohort. ATL remains a safe and effective treatment for well-selected patients who fail MRgLITT.