bluuebunny/crossref_metadata_2025_split huggingface dataset:
A case of encephalopathy following a 10k run
Authors: Carstairs Claire , Jaffer Fatima , Brex Peter 
Published: May 2022

We present the case of a 47-year-old man who was admitted with unexplained delirium. He had taken part in a 10km running race three days before. He was admitted to intensive care one year earlier having presented with vomiting, seizures and encephalopathy. This occurred after a road trip in the USA with frequent steakhouse visits. No definitive diagnosis was made. His sister died at 57 from a presumed encephalitis after chemotherapy for breast cancer, but the diagnosis was uncertain. On initial examina- tion the patient was delirious but neurological examination was unremarkable. Blood tests revealed a low-grade neutrophilia with a normal CRP; ammonia was high (340 micromols/L); CK was normal; plasma amino acid profile showed a high glutamine level (1237micromol/L). EEG findings were in keeping with moderate encephalopathy. Genetic testing revealed hemizygosity for the X-linked pathogenic c. 118>T p.(Arg40Cys) mutation, indicating ornithine transcarbamylase (OTC deficiency). The patient’s clinical state improved with supportive measures. He was referred to a specialist metabolic disorder clinic and has remained well. OTC deficiency is a rare but important cause of hyperammonaemic encephalopathy, which can be fatal. Targeted family history in cases of encephalopathy may be helpful. Diagnosis allows genetic counselling and successful management with straightforward methods including diet and exercise modification, dietary supplementation and “SOS” formulas for times of acute illness. We explore investiga- tion and management for under-recognised, important, causes of hyperammonaemic encephalopathy.claire.carstairs@nhs.net
004  Validation of the diagnostic criteria for sporadic Creutzfeldt-Jakob disease
Authors: Watson Neil , Brandel Jean-Philippe , Green Alison , Hermann Peter , Ladogana Anna , chiari Maurizio Poc- , Smith Colin , Summers David , Zerr Inga , Pal Suvankar 
Published: May 2022

Sporadic Creutzfeldt-Jakob disease (sCJD) is the commonest form of CJD, a universally fatal and rapidly progressive human prion disease. sCJD typically presents with rapidly progressive dementia but can have diverse manifestations. The diagnosis can be challenging. Diagnostic criteria were revised in 2017 to include the real-time quaking-induced conversion (RT-QuIC) assay and cortical ribboning on magnetic resonance imaging (MRI). The aim of this study is to validate the diagnostic criteria, with the secondary aim of evaluating its impact on classification during life and hence case ascertainment. 501 deceased subjects with post-mortem (PM)-confirmed sCJD between 2017–2019 were included from the national registries of the UK, France, Germany and Italy. A control group of 146 subjects with alternative diagnoses at PM was included. Diagnostic test outcomes were recorded. RT-QuIC was 91.6% sensitive and 100% specific. MRI was the second most sensitive (86.8%) and specific (91.9%) investigation. Codon 129 had a significant impact on MRI changes in sCJD (p<0.001). Subjects were classified during life according to the previous and updated criteria to assess the impact on ascertainment. Revised criteria increased in-life sCJD diagnosis rates by 22.4%. In conclusion, the diagnostic criteria are highly sensitive and specific, allowing effective differentiation of sCJD from potentially treatable mimics, and enhancing in-life sCJD diagnosis.neilwatson@nhslothian.scot.nhs.uk27
005  Automated classification of inter-ictal EEG in the diagnosis of epilepsy
Authors: Ahmed Rohan , Pegg Emily , Taylor Jason , Mohanraj Rajiv 
Published: May 2022

BackgroundDiagnosis of epilepsy is based on descriptions of attacks, supported by finding epileptiform activity on EEG. Routine EEG can detect inter-ictal epileptiform discharges (IEDs) in approximately 50% of patients with epilepsy, and approximately 1% of the general population can have IEDs without ever developing epilepsy. The lack of a reliable biomarker is a factor in the high misdiagnosis rate of epilepsy. The EEG carries a wealth of information on brain activity, which cannot be discerned by visual analysis. Advanced EEG analysis with machine learning approaches hold promise in unlocking additional useful information contained in the EEG signal.Methods20 patients with idiopathic generalised epilepsy and 20 age-matched controls underwent a 64-channel EEG. After pre-processing, a 20 second epoch of resting state, eyes closed EEG free from IEDs and artefact was used for analysis. Band-pass filtered EEG was used to construct functional connectivity matrices by calculating phase locking value (PLV) between electrode pairs. Connectivity matrices were analysed by a machine learning algorithm to classify patients into epilepsy and controls.ResultsThe ML classifier achieved a classification accuracy of 60% between patients with epilepsy and normal controls.ConclusionsAutomated machine learning analysis has the potential to improve the diagnostic utility of EEG in epilepsy. Alternatives to functional connectivity matrices will be explored in future studies with the objective of improving classifier performance.rohanahmed92@gmail.com
010  Seizure semiology of frontal lobe epilepsy (FLE): a report of two cases with video-telemetry recordings
Authors: Gurney Rowan , Rugg-Gunn Fergus , Sidhu Meneka 
Published: May 2022

Frontal lobe seizures can be difficult to distinguish from non-epileptic seizures or sleep disorders. Addition- ally, the ictal EEG is often normal. To illustrate the challenging semiology and frequent misdiagnosis of FLE we discuss two patients, accompanied by video-EEG from the Chalfont Centre for Epilepsy.Case 1, a 41-year-old man with right frontal lobe focal cortical dysplasia presented with stereotyped nocturnal focal motor seizures that were associated with right frontal epileptic discharges. Seizures manifested as contralateral head version and tonic posturing of the upper limbs; the characteristic “fencing posture” described in seizures involving the supplementary motor area. In some, these evolved to hyperkinetic seizures.Case 2, a 23-year-old woman with multiple cavernous haemangiomas secondary to KRIT1 gene mutation, presented with stereotyped bipedal cycling movements of the lower limbs and loss of awareness, without associated ictal EEG change. These episodes were previously mis-diagnosed as non-epileptic but were confirmed as epileptic seizures from a right frontal lobe cavernoma.The unusual semiology of FLE represents a diagnostic challenge, which cannot always be resolved with ictal EEG recordings. FLE should be considered with episodes which are nocturnal, brief, stereotyped, motor predominant with, or without, awareness, and often with bilateral upper limb posturing or hyper- kinetic movements.rowangurney1@nhs.net30
013  Validation of an algorithm identifying epilepsy related hospital admissions from routinely collected administrative data
Authors: Mitchell James , Zammit Louise , Kallis Constantinos , Dixon Pete , Grainger Ruth , Powell Graham , Marson Tony 
Published: May 2022

Routinely collected administrative datasets can be used to identify healthcare resource use and inform strategic planning and policy development. We evaluate a new comprehensive epilepsy admission algorithm using ICD-10 coding data from these administrative datasets against a gold standard and existing admission identification algorithms.All consecutive admissions to a large UK general hospital meeting predefined criteria were identified over a one-month period. Case note review was performed by independent clinicians and admission classi- fied as epilepsy or not epilepsy related. The Liverpool algorithm and a widely used comparator algorithm were applied to the ICD-10 administrative data and compared to clinician classification.In total 205 admissions were identified. Case-note review (gold standard) identified that 35 cases were epilepsy related admissions, and 156 were not epilepsy related. It was not possible to classify 14 admis- sions due to missing or insufficient data. The Liverpool algorithm incorrectly classified only 17 out of 191 admissions compared to 30 incorrectly classified admissions from a comparator algorithm. The Liverpool algorithm demonstrates sensitivity of 85.7% and specificity of 92.3%.Whilst no perfect algorithm is likely to exist, the Liverpool algorithm identifies hospital admissions due to epileptic seizures using administrative data with improved sensitivity and specificity compared to previous methods.james.mitchell@liverpool.ac.uk
015  Long-term (1-year) seizure freedom with adjunctive perampanel in paediatric patients with epilepsy: study 311
Authors: Flamini Robert , Patten Anna , Malhotra Manoj , Ngo Leock Y 
Published: May 2022

BackgroundLong-term (1-year) seizure-freedom rates with adjunctive perampanel were assessed in paediatric patients aged 4–<12 years with focal-onset seizures (FOS) (with/without focal to bilateral tonic-clonic seizures [FBTCS]) or generalised tonic-clonic seizures (GTCS) during Study 311 (NCT02849626).MethodsSeizure-freedom rates (FOS, FBTCS, GTCS) were assessed in patients who achieved seizure freedom during the Core Study Maintenance Period and then remained seizure free for up to 12 months (calculated from the start of their seizure-free period). Data were stratified by concomitant enzyme- inducing anti-seizure medications (EIASMs) (with and without) and age (4–<7 and 7–<12 years).ResultsFor FOS, 6/11 (54.5%) patients remained seizure free for 12 months (with EIASMs, n=2/5 [40.0%]; without EIASMs, n=4/6 [66.7%]; 4–<7 years, n=0/1; 7–<12 years, n=6/10 [60.0%]). For FBTCS, 1/5 (20.0%) patient(s) remained seizure free for 12 months (with EIASMs, n=0/1; without EIASMs, n=1/4 [25.0%]; 4–<7 years, n=0/2; 7–<12 years, n=1/3 [33.3%]). For GTCS, 3/7 (42.9%) patients remained seizure free for 12 months (all 7–<12 years, n=3/6 [50.0%]; no GTCS seizure-free patients received EIASMs).ConclusionDespite small patient numbers, seizure-freedom rates are maintained during long-term (1-year) perampanel treatment in paediatric patients, consistent with analyses in adolescents/adults.Funding.Eisai Inc. stella_ngo@eisai.com
020  Post-operative seizure semiology and scalp EEG changes in a case of right temporal lobe epilepsy
Authors: Sim Nicholas Keyi , Singh Rinki , Maguire Melissa 
Published: May 2022

We report a case of changing semiology of intractable right temporal lobe epilepsy. The patient’s semiology of ictal spitting, altered awareness, automatisms and occasional secondary generalization remained stable for many years. 3T MRI head was normal, and subsequent advanced imaging and neu- rophysiology localised the seizure focus to the right temporal lobe and surrounding regions. He received a right temporal lobectomy, with subsequent redo surgery due to incomplete margins. These did not confer seizure freedom. Subsequently his seizure semiology changed to episodic fluent dysphasia with preserved awareness. This was correlated with scalp EEG changes now showing lateralisation to the bilateral temporal lobes.This case demonstrates that seemingly unilateral temporal lobe epilepsy may arise from bilateral networks, which can manifest for years from one hemisphere. It is also possible that extra-temporal origin seizures (for example from perisylvian, fronto-basal or parietal locations) can manifest with temporal-like semiology and can spread to either temporal lobe, and thus can be a cause of epilepsy surgery failure.nchlasim@doctors.org.uk35
024  Predicting outcome using patient reported outcomes (PRO) in the UK Parkinson’s disease tissue bank
Authors: Leslie Rebecca , Tilley Benison , Romozzi Marina , Nicholas Edward , Gentleman Steve , Nicholas Richard 
Published: May 2022

BackgroundPrognostic tools in Parkinson’s disease (PD) focus on physician’s assessments. The United Kingdom Parkinson’s disease tissue bank (UKPDTB) has developed a 100-question PRO, the Imperial College London donor questionnaire (ICLDQ).ObjectivesTo investigate whether particular ICLDQ questions can predict survival.MethodsResponses to the ICLDQ Likert scale (scored 0–3) were collected in PD and controls. Using logistic regression modelling we investigated the relationship between responses and survival in PD. Models were tested on an additional sample of PD patients in the UKPDTB.Results159 responses in PD and 203 controls were analysed. 75 participants with PD and 0 controls had died since questionnaire completion. Cox regression produced a model of five questions for predicting survival (Concordance=0.751). Questions were divided into symptom categories and two models were generated. One combined sleep and self-care (Concordance=0.661), another combined self-care and autonomic dysfunction (R2=0.1544). When tested on the additional PD sample (n=63), the model combining sleep and self-care was the most effective for predicting survival.ConclusionsPROs can predict prognosis in PD. High correlation between questions suggests an abbre- viated questionnaire would be beneficial. Difficulties with self-care have been linked with poor survival, our findings support this.rml1u16@soton.ac.uk37
025  Keeping time: ward-based interventions improve levodopa administration at the National Hospital of Neurology and Neurosurgery
Authors: Levee Viva , Iqbal Sabahat , Ceronie Bryan , Saifee Tabish , Korlipara Prasad , Foltynie Thomas 
Published: May 2022

BackgroundThe National Hospital for Neurology and Neurosurgery admits Parkinson’s disease (PD) patients for medical management and deep brain stimulation, as well as non-PD inpatients on levodopa with dystonia or atypical Parkinsonism. Previous work showed 24.5% of administrations were outside of the recommended 30-minute time window.MethodsWe introduced interventions based on the Leeds Quality Improvement Project “Get it Right on Time”, adapted for local protocols and focused questionnaires. Due to cancellation of elective PD admissions during the SARS-CoV-2 crisis, we included all inpatients on levodopa. We tested differences between pre-intervention and post-intervention groups using Chi-squared (χ2), with post hoc comparisons to examine individual time categories.ResultsWe compared 177 post-intervention administration episodes to 404 in the pre-intervention group. Across all time categories, we found a significant change in administration timings between groups (χ2=35.9, p<0.001). This was driven by an increase in levodopa given on time, from 11.4% to 23.2% (p<0.001) and a decrease in levodopa given up to 15 minutes late, from 31.2% to 17.5% (p<0.001).ConclusionWard-based interventions improve timely levodopa administration. Including non-PD patients altered the study population and may have impacted results. Further work includes surveying staff to identify additional interventions and investigating a PD-only cohort.vivalevee@gmail.com
028  Cortical sensorimotor representations remain normal in musicians’ dystonia despite global deficit in dexterity
Authors: Sadnicka Anna , Wiestler Tobias , Butler Katherine , Edwards Mark , Ejaz Naveed , Diedrichsen Jorn 
Published: May 2022

Musicians’ dystonia presents with a persistent loss of motor control during musical performance. The pre- dominant hypothesis is that this loss of motor control is underpinned by maladaptive neural changes to the somatotopic organization of finger representations in primary somatosensory cortex. Here, we tested this hypothesis by investigating the finger-specific activity patterns in the primary somatosensory (S1) and motor cortex (M1) using functional magnetic resonance imaging with state-of-the art multivariate analyses in 11 musicians with dystonia and 9 healthy musicians. We also characterized their dexterous finger control to investigate whether the deficit is strictly limited to musical performance or also generalizes to a non-musical task. We report two key findings. First, during the production of individuated finger presses, musicians with dystonia showed a small, but robust loss of motor control. This deficit was characterized by both a reduction in finger individuation ability, and an exaggeration of mirror movements primarily during use of the clinically identified symptomatic hand, but also to a lesser extent during asymptomatic hand use. Second, we found no evidence of disease-related changes in the corresponding finger representa- tions in S1/M1. Our results contradict the view that abnormalities in sensorimotor finger representations play a role in the pathophysiology of musicians’ dystonia. Our behavioral results also suggest that the loss of finger dexterity in musicians’ dystonia expresses along a spectrum with subtle abnormalities in motor control evident during ordinary dexterous tasks.asadnick@sgul.ac.uk|ABN Bursary39
031  Left internal carotid artery dissection presenting as an isolated left hypoglossal nerve palsy
Authors: Hanbury Georgina , Baheerathan Aravindhan , Auger Stephen , Patel Maneesh , Gabriel Carolyn 
Published: May 2022

A 33 year old male with no significant past medical history presented to the emergency department with an acute onset 4 day history of an odd sensation over his tongue and slurring of his speech. He had noted that his tongue deviated to the left when he stuck it out. There was no headache and no taste disturbance.Clinical examination revealed a left sided hypoglossal nerve palsy. Sensation of the tongue to pin-prick and taste was normal. There was no Horner’s syndrome.CT Angiogram of aortic arch and carotid vasculature demonstrated marked irregular calibre and increase in wall thickness of the left internal carotid artery (ICA), just adjacent to the external aperture of the hypoglossal canal, in keeping with a localised left ICA dissection. There was no clinical or radiological evidence of infarction. He was treated with high-dose anti-thrombotic treatment.An acute isolated hypoglossal nerve palsy as a sequelae of a high ICA dissection is a rare but well docu- mented clinical presentation. The hypoglossal nerve is vulnerable to compression as it passes between the internal jugular vein and internal carotid artery at the skull base. It is crucial that neurologists and stroke physicians swiftly recognise this clinico-radiological syndrome to facilitate prompt, appropriate investigation and commencement of appropriate treatment.aravindhan.baheerathan1@nhs.net
032  Improving access to inpatient ambulatory cardiac monitoring for acute stroke patients during the Covid-19 pandemic
Authors: Jeffery Harriet , Sanz Elena Rivero , Turner David 
Published: May 2022

IntroductionAmbulatory cardiac monitoring (ACM) identifies atrial fibrillation (AF) in 10.7% of patients with ischaemic stroke and no prior history of the condition.Prior to the Covid-19 pandemic, there was limited access to inpatient ACM. During the pandemic the stroke unit was provided with rapid access to inpatient ACM.Aims1. To examine the number of inpatient and outpatient ACM performed during the pandemic and the number of these which positively identified AF. 2. to measure the mean waiting time for the ACM.MethodsThe records of patients in the six months prior to (n=118) and the five months during the pandemic (n=354) were analysed.ResultsThe proportion of ACM performed as an inpatient increased from 21% to 59% during the pandemic. Inpatient rapid access ACM identified AF in 6% of patients (vs. 0% previously) and all were anticoagu- lated within 14 days of their stroke. Waiting times for inpatient ACM decreased from a mean of 17 to 4 days during the pandemic.DiscussionThere was a significant shift in clinical practice and diagnostic access to inpatient ACM during the pandemic, resulting in a greater proportion of tests, increased identification of AF and early anticoagulation, leading to improved patient care and potentially preventing further ischaemic events.harrietjeffery@nhs.net|ABN Bursary41
034  Early lowering of blood pressure after acute intracerebral haemorrhage: systematic review and meta-analysis of patient-level data
Authors: Moullaali Tom , Wang Xia , Sandset Else , Woodhouse Lisa , Law Zhe Kang , Salman Rustam Al-Shahi , Anderson Craig , Bath Philip 
Published: May 2022

ObjectiveTo summarise evidence of the effects of blood pressure (BP)-lowering interventions after acute spontaneous intracerebral haemorrhage (ICH).MethodsPre-specified systematic review of the Cochrane Central Register of Controlled Trials, EMBASE and MEDLINE databases from inception to 23 June 2020 to identify randomised controlled trials that compared active BP-lowering agents vs. placebo or intensive vs. guideline BP-lowering targets for adults <7 days after ICH. Primary outcome was function (distribution of scores on the modified Rankin scale) 90 days after ran- domisation. Radiological outcomes were absolute (>6mL) and proportional (>33%) haematoma growth at 24 hours. Meta-analysis used a one-stage approach, adjusted for pre-specified covariables and trial.ResultsOf 7094 studies identified, 50 trials involving 11,494 patients were eligible and 16 (32.0%) shared patient-level data from 6,221 (54.1%) patients (mean age 64.2 [SD 12.9], 2,266 [36.4%] females) with a median time from symptom onset to randomisation of 3.8 hours (IQR 2.6−5.3). Active/intensive BP-lowering had no effect on the primary outcome compared to placebo/guideline treatment (adjusted OR for unfavourable shift in modified Rankin scale scores: 0.97, 95%CI 0.88−1.06; p=0.50), but there was signifi- cant heterogeneity by strategy (pinteraction=0.031) and agent (pinteraction<0.0001). Active/intensive BP-lowering reduced absolute and relative haematoma growth.Interpretation: Overall, a broad range of interventions to lower BP within 7 days of ICH had no benefit on functional recovery, despite reducing bleeding. The treatment effect appeared to vary according to strategy and agent.tom.moullaali@ed.ac.uk
038  Investigatory imaging in autoimmune-paraneoplastic encephalitis
Authors: Seddigh Arshia , Arun Tarunya 
Published: May 2022

IntroductionAbout 60% of patients with Autoimmune-Paraneoplastic Encephalitis (AIE-PNE) develop a clinical syndrome before malignancy is diagnosed. Tumour screening, early recognition and prompt treatment is likely to improve outcomes. Imaging guidelines for the management of these patients have not yet been defined. This study aimed to characterise the current use of imaging in the monitoring and management of people with AIE-PNE.MethodsWe enrolled 23 patients with a diagnosis of suspected or confirmed AES-PNE (Dalmau, 2016). MRI head, whole body CT and PET scans patterns were analysed.ResultsPatients had a diagnosis of suspected or confirmed AIE-PNE. A third had MRI abnormalities at presentation. 81% underwent a body CT at presentation with 20% having abnormalities. 66% had PET scans at presentation with 22% showing an abnormality. Most prevalent antibodies were NMDA (35%), LGI1 (17%) and GABA-B (9%). 14% had lung malignancy.ConclusionBody CT was the commonest imaging investigation performed at presentation and only a little over half had further investigations if initial CT was negative. No patient that responded to initial treatment had further investigations to look for an underlying malignancy. There is an urgent need for follow up studies that will inform future imaging criteria for AIE-PNE.arshiaseddigh@nhs.net|ABN Bursary44