Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Case ReportsWhole-genome sequencing and the clinician: a tale of two cities.
Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing. Access to genomic technology and resultant data is no longer limited to clinicians, geneticists and bioinformaticians, however; ongoing commercialisation gives patients themselves ever greater access to sequencing services. We report an increasingly common medical scenario by describing two neuromuscular patients--a mother and adult son--whose consumer access to whole-genome sequencing affected their diagnostic journey. ⋯ This report highlights the essential interplay of clinical and genomic expertise in realising the potential of high-throughput sequencing. In an era when patients themselves may bring their own data to the table, definitively identifying clinically significant genomic variants will require close collaboration among clinicians, geneticists and bioinformaticians.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Primary and secondary care attendance, anticonvulsant and antidepressant use and psychiatric contact 5-10 years after diagnosis in 188 patients with psychogenic non-epileptic seizures.
There have been few studies of long-term outcome in psychogenic non-epileptic seizures (PNES), and none of long-term healthcare utilization. ⋯ Surprisingly few of our patients had presented with seizures during the study period. Early reductions in both AED use and healthcare use were sustained long term. Although psychiatric and employment outcomes were less encouraging, some aspects of PNES outcome may be better than previously thought.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Malformation risks of antiepileptic drug monotherapies in pregnancy: updated results from the UK and Ireland Epilepsy and Pregnancy Registers.
Antiepileptic drug (AED) exposure during pregnancy increases the risk of major congenital malformations (MCMs). The magnitude of this risk varies by AED exposure. Here we provide updated results from the UK Epilepsy and Pregnancy Register of the risk of MCMs after monotherapy exposure to valproate, carbamazepine and lamotrigine. ⋯ In utero exposure to valproate carries a significantly higher MCM risk than lamotrigine (p=0.0001) and carbamazepine (p=0.0001) monotherapy. In contrast to prior findings, high-dose lamotrigine was associated with fewer MCMs than all doses of valproate. While lamotrigine has a favourable profile compared with valproate for adverse pregnancy outcomes, the requirements for seizure control should not be overlooked.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
Meta Analysis Comparative StudyWhich target is best for patients with Parkinson's disease? A meta-analysis of pallidal and subthalamic stimulation.
There is a growing body of evidence demonstrating that deep brain stimulation (DBS) of globus pallidus internus (GPi DBS) and subthalamic nucleus (STN DBS) are effective treatment for patients with Parkinson's disease (PD). However, it remains controversial whether the best stimulation target for a PD patient is GPi or STN. ⋯ The effect of GPi DBS was similar to STN DBS except for depression, however, only three studies described depression as adverse events. We need additional randomised trials with direct comparison between targets based on unified scoring of adverse events.
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J. Neurol. Neurosurg. Psychiatr. · Sep 2014
ReviewAn MRI review of acquired corpus callosum lesions.
Lesions of the corpus callosum (CC) are seen in a multitude of disorders including vascular diseases, metabolic disorders, tumours, demyelinating diseases, trauma and infections. In some diseases, CC involvement is typical and sometimes isolated, while in other diseases CC lesions are seen only occasionally in the presence of other typical extra-callosal abnormalities. In this review, we will mainly discuss the MRI characteristics of acquired lesions involving the CC. Identification of the origin of the CC lesion depends on the exact localisation of the lesion(s) inside the CC, presence of other lesions seen outside the CC, signal changes on different MRI sequences, evolution over time of the radiological abnormalities, history and clinical state of the patient, and other radiological and non-radiological examinations.