bluuebunny/crossref_metadata_2025_split huggingface dataset:
213  Improving the investigation and management of papilloedema in an acute medical setting
Authors: Hornby Catherine , Auger Stephen , Jacobs Ben , Turner Ben 
Published: May 2022

AimTo streamline and improve the investigation of patients with papilloedema presenting to the acute medical take in a large teaching hospital.MethodsPatients seen on the acute medical take at the Royal London Hospital with suspected papil- loedema were identified retrospectively. A total of 19 patients were seen between April and November 2019. A number of modifiable delays to initial investigations and areas for improvement were identified from these data. A simple flowchart explaining key points in investigation and initial management of patients with papilloedema was devised and distributed to those involved in the acute take.ResultsThe identified areas for improvement included delays to lumbar puncture, failure to discuss management with neurologists after identification of raised intracranial pressure, and ensuring initial management was started in those with suspected idiopathic intracranial hypertension. There were also a number of instances in which papilloedema was not confirmed by an ophthalmologist prior to inap- propriate invasive investigations. Education and provision of better information to acute medics improved many of these outcomes.ConclusionA clear and easy to use flowchart for those involved in the acute take minimised errors identified and improved the initial investigation and management of papilloedema presenting to the acute medical take.catherine.hornby2@nhs.net
216  Lesion distribution and substrate in type 1 myotonic dystrophy: comparison with multiple sclerosis
Authors: Leddy Sara , Serra Laura , Esposito Davide , Vizzotto Camilla , Silvestri Gabriella , Petrucci Antonio , Meola Giovanni , Cercignani Mara , Bozzali Marco 
Published: May 2022

IntroductionThis study compares the white matter lesion distribution and substrate between patients with type one myotonic dystrophy (DM1) and patients with Multiple Sclerosis (MS).MethodsTwenty-eight patients with DM1, 29 patients with relapsing remitting MS, and 15 healthy controls had an MRI scan, including FLAIR, quantitative magnetization transfer (qMT) imaging. qMT data were processed to compute the pool size ratio (F), correlating with myelin content. The average F was computed within lesions and normal appearing white matter (NAWM) for every participant. Lesion masks were warped into MNI space and lesion probability maps were obtained for each patient group.ResultsMean lesion volume was higher in MS than DM1. DM1 presented higher prevalence of anterior temporal lobe lesions, but none in the cerebellum and brainstem. In both patient groups the mean F of lesions was lower than the NAWM (p<0.01, CI 0.06–0.07), but it was lower in MS than DM1 (p<0.01, CI 0.01–0.04).ConclusionsDM1 show a greater lesion distribution in the temporal lobe regions compared to MS. Using qMT, we demonstrated reduced F values within DM1 lesions, suggesting a loss of myelin density. The mean F is lower in MS lesions than DM1 lesions, indicating a lesser degree of demyelination in the former.sara.leddy1@nhs.net
219  MRI monitoring in MS patients prescribed disease monitoring treatments in Kings College Hospital
Authors: Raftopoulos Rhian , Teo James , Jarosz Jozef , Brex Peter 
Published: May 2022

To date the MRI monitoring of MS patients on disease modifying treatments at KCH has gone unquanti- fied. This audit aimed to quantify and evaluate our current use of MRI in monitoring treatment response and safety in patients prescribed disease modifying treatments(DMTS)A list of patients prescribed DMTs between April 2016 and July 2019 was obtained via the Blueteq system. We used Cogstack to extract all MRI scan reports available for these patients (excluding pre-treatment scans). Every scan report was reviewed manually and the presence of new or enlarging T2 lesions and contrast enhancing lesions were documented for each of the different disease modifying treatments.2072 scan reports were reviewed for 1250 patients prescribed DMTs. The largest number of monitoring scans were performed on patients prescribed Natalizumab (average 5.2 per scan per patient, compared to 1.04 scans per patient for alemtuzimab, 1.63 per patient for fingolimod). Patients prescribed higher efficacy drugs had the greatest proportion of stable MRI scans (93% + 85% of natalizumab and alem- tuzimab monitoring scans versus 66 and 70% of glatiramer acetate and B interferon monitoring scans, respectively). 3 of 2072 scans demonstrated imaging findings suspicious for PML (all patients prescribed natalizumab), 1 case was subsequently confirmed.r.raftopoulos@ucl.ac.uk
222  DECISIve – DiagnosE using the Central veIn SIgn. A study comparing T2* MRI and lumbar puncture
Authors: Allen Christopher Martin , Morgan Paul , Craner Matthew , Tallantyre Emma , Schmierer Klaus , Dineen Robert , Fitzsimmons Deborah , DasNair Roshan , Partlett Christopher , Evangelou Nikos 
Published: May 2022

Can a brain T2* MRI scan replace lumbar puncture in the diagnostic pathway of MS? We will present the preliminary data from DECISIve, a National Institute for Health Research – Research for Patient Benefit funded multicentre study. Clinical Trials reference:NCT04024969Due to the revised 2017 McDonald diagnostic criteria, many more people are undergoing lumbar punctures, resulting in discomfort and additional costs to the NHS. Brain lesions with a central vein, detected with T2* MRI are thought to be characteristic of MS. Using a single group superiority diagnostic accuracy study, our primary research question is: Is T2* MRI a more sensitive diagnostic test than lumbar puncture with oligoclonal band examination, amongst people at first clinical presentation with possible MS?Recruitment is now open across four neuroscience centres for a year and clinical follow up will last 18 months to establish the diagnosis. We will compare the accuracy, speed, costs and acceptability of the different tests needed to make a diagnosis of MS and establish if most lumbar punctures can be replaced by a slightly longer MRI scan.christopher.allen@nottingham.ac.uk
223  Functional neurological symptom disorder & autistic spectrum disorders: a litera- ture review of co-incidence and shared mechanisms
Authors: Roelofs Jacob , Petrochilos Panayiota , Selai Caroline 
Published: May 2022

Functional Neurological Symptom Disorder (FNSD) and Autistic Spectrum Disorders (ASD) are both complex and incompletely understood conditions. This review investigates the literature for evidence of associa- tion between them.A literature search produced nineResultsthree case reports and six epidemiological studies. The case reports describe the conditions co-occurring, providing anecdotal evidence of an association. Nimmo- Smith and Lever reported 2.5-fold and three-fold higher prevalence of ‘somatoform disorders’ in ASD samples compared to the general population (Lever 2016; Nimmo-Smith 2020). Jester and Schendel published studies which both suggest higher rates of functional symptoms in ASD patients, are limited by methodological issues (Jester 2016; Schendel 2019). Only the study by Roy reported no difference; 8% prevalence compared to 7.5% (Roy 2015). McWilliams et al reported a case series showing a much higher rate of ASDs in 59 young people with non-epileptic seizures; 16.9%, compared to 1.3–1.5% in the general population (McWilliam 2019).The range of terminology and methodology used makes integrating the results difficult, but overall there is evidence of an association between ASD and FNSD. Potential mechanisms linking the two such as emotional dysregulation and alexithymia are highlighted, as well as brain regions including the amygdala and anterior cingulate cortex (ACC).jacob.john.roelofs@gmail.com
227  Reduced drift rate: a biomarker of impaired information processing in functional movement disorders
Authors: Sadnicka Anna , Daum Corinna , Meppelink Anne-Marthe , Edwards Mark , Manohar Sanjay 
Published: May 2022

Recently the similarity of neuropsychiatric profiles across a range of functional syndromes has been high- lighted. This is suggestive of a common underlying mechanism with a theoretical deficit of information processing proposed. In this study, we took the temporal discrimination threshold, as a paradigm that can be used to model sensory processing in functional movement disorders. Our hypothesis was that we would be able to delineate markers of slowed information processing in this paradigm removed from the phenomenological presentation with a movement disorder. We recorded both response accuracy and reaction time in a two choice temporal resolution/discrimination task in 36 patients with functional movement disorders and 36 controls. We used a well-established model for decision-making (the drift diffusion model) to estimate mechanistic physiological dimensions of decision-making and sensory pro- cessing. This revealed pathologically reduced drift rate in the patient group, a parameter that quantifies the quality and rate of information accumulation within this sensory task (p=0.002). We discuss how the deficits we observed in patients with functional movement disorders are likely to stem from abnormal allocation of attention that impairs the quality of sensory information available. Within a predictive coding framework sensory information could be down-weighted in favour of predictions encoded by the prior. Our results therefore offer a parsimonious account for a range of experimental and clinical findings.asadnick@sgul.ac.uk
229  Developing novel smell test for Parkinson’s disease using microencapsulation of essential oils in alginate
Authors: Li Haoxuan , Ismail Ahmed , Azevedo Helena , Castrejon-Pita Rafa , Giovannoni Gavin , Noyce Alastair 
Published: May 2022

BackgroundOlfactory dysfunction is an early, non-motor feature of Parkinson’s disease. The UPSIT is one of the most commonly used smell tests. However, newer methods to encapsulate smells might offer better performance and longer ‘shelf life’. We developed a prototype of a novel smell test involving microen- capsulation of essential oils (EO) in alginate gel.MethodsA dual infusion pump system with a stainless-steel nozzle needle, containing an inner and outer needle, emitted EO and alginate respectively. The alginate beads expelled from the needle were solidified in calcium chloride (CaCl2) solution (1M). Various alginate viscosities were investigated. Microcapsules were separated into 3 storage conditions: open, closed and loosely sealed (LS). Their size, weight and scent retention were monitored over six months.Results98% of LS microcapsules remained functional at six months. The average weight of microcap- sules decreased by 15.9%, reaching 0.0024g by six months. However, microcapsules made using medium viscosity (>2000cP) alginate and those kept in LS conditions, remained relatively constant in weight. Mor- phological analysis revealed the average diameter of microcapsules to be 2mm.ConclusionThis pilot project has provided insight into the microencapsulation process, indicating that medium viscosity alginate and LS storage are favourable for future development of a cheap and widely applicable smell test.ha15632@qmul.ac.uk
230  Sydenham’s chorea in an elderly patient
Authors: Diyab Mohamed , Bose Sumanjeet , Awad Ezzat , Zukos Ioannis , Dasari Ravi 
Published: May 2022

79 year old gentleman presented with multiple involuntary limb movements, initially referred to the acute medical unit as a seizure. After initial triage, he was managed as a dystonia. Patient was seen by ITU, and neurology opinion was requested. On consultant review, the ‘dancing type’ involuntary movements in limbs and in the face pointed towards a generalised chorea with mild athetosis of the left side, with expulsive speech. Patient also reported severe dental pain, and on examination, bloody ulcers and poor oral hygiene and dentition were noted. MRI showed acute small stroke of the left occipital area. Inflam- matory markers were raised, and anticardiolipin antibodies were increased. Blood cultures were positive for streptococcal bacteraemia. CT-CAP ruled out malignancy or large bleed, trans-oesophageal echo was negative for infective endocarditis, antibasal ganglia antibodies were negative, and paraneoplastic antibodies were negative. Patient was ultimately treated for Sydenham’s chorea secondary to strepto- coccal infection, after ruling out all other likely causes and in light of positive streptococcal bacteraemia. Symptoms resolved significantly on olanzapine, amoxicillin, and gentamycin.d.mosh666@yahoo.com
234  Using functional status to aid interpretation of cUHDRS scores in patients with Huntington’s disease
Authors: Trundell Dylan , Palermo Giuseppe , Long Jeffery D , Leavitt Blair R , Schobel Scott A , Blair Rachel , Tabrizi Sarah J 
Published: May 2022

The composite Unified Huntington’s Disease Rating Scale (cUHDRS) is a scoring algorithm that combines Total Functional Capacity (TFC), Total Motor Score, Symbol Digit Modalities Test and Stroop Word Reading measures. Our aim was to enhance understanding of cUHDRS scoring by linking to established measures of meaningful daily function and independence in individuals with early-to-moderate-manifest Hunting- ton’s disease (HD).Data from Enroll-HD were evaluated. For patients meeting the reference population for the cUHDRS (manifest HD, TFC 5–13, ≥20 years; N=3,490), cUHDRS score ranges were calculated. Patients were divided into groups around each integer score; for each grouping, the mean HD stage, Independence Scale (IS) score, mean Functional Assessment (FA) score and number of FA items that ≥50% of individuals achieved were calculated.cUHDRS score groupings ranged 3–18 (N=3,484). For patients in the 14–18 cUHDRS score groupings, ≥50% achieved 25 FA items and had a mean IS=95. For patients in the lowest cUHDRS score group, cUHDRS=3, only 12 FA items were achievable by ≥50% and mean IS=65.cUHDRS scores reflect the differing levels of function in individuals with early-to-moderate-manifest HD. The cUHDRS can better differentiate between individuals with Stage 1 HD than commonly used measures of function.rachel.blair@roche.com
235  Assessing coding of diagnosis for atypical parkinsonian syndromes
Authors: Zhong G , Massey L , Thomas S , Ghosh B 
Published: May 2022

BackgroundAtypical Parkinsonian syndromes, including Progressive Supranuclear Palsy (PSP), Multiple System Atrophy (MSA) and Corticobasal Syndrome (CBS), are rare neurodegenerative diseases. Reports showed that the use of the health services for patients with these diseases is underestimated. The NHS uses International Classification of Disease revision 10 (ICD-10) to code health use which has led to error in patient data for these diseases, as they are relatively new entries to this system and there were changes in coding practice in 2016.AimsTo retrospectively investigate the scale of miscoding of PSP, MSA and CBS in England since the introduction of ICD-10.MethodsFreedom of information requests were issued to 150 NHS trusts in England to investigate their method of coding and determine the coding error rate.ResultsThe coding error rates prior to, and after 2016 respectively were: 29.5%, 0% (PSP); 3.8%, 2.3% (MSA); 24.2%, 24.2% (CBS). The indexing for CBS is difficult as no specific coding exists for CBS in ICD-10.ConclusionThe high error rate for PSP is contributed by miscoding of PSP (G23.1) as MND (G12.2), due to the coding techniques employed. These errors have largely been rectified in later versions of ICD-10 with the exception of CBS.ggz1g17@soton.ac.uk
237  Designing and implementing a home based care pathway for people with Parkinson’s disease
Authors: Edwards Emma , Triscott Kevin , Ankeny Ursula , Langley Joseph , Partridge Rebecca , Swabey Matthew , Rideout Jane , Whipps Sue , Whipps John , Carroll Camille 
Published: May 2022

Healthcare for people with Parkinson’s (PwP) can vary across the UK. With the prediction that numbers will increase by a fifth by 2025, the Parkinson’s specialist team in Plymouth recognised an opportunity to meet the challenge with a service re-design that incorporated patient initiated contact and digital technology.Following a series of workshops facilitated by healthcare design engineers, and attended by PwP, their family, Parkinson’s practitioners, and digital health representatives, various supportive and educational materials were devised to support patient self-management supported by home based monitoring.The main structure and associated materials of the pathway incorporated 3 main themes:Education and support (which includes an initial teaching session, information booklets, symptom tracking cards, and an online social media group for peer support);Clear information on how to initiate a healthcare contact via a dedicated email and telephone hotline;Motor and non-motor symptoms monitored from home via the Parkinson’s KinetigraphTM (PKG) watch and regular completion of validated questionnaires.The first phase of this Health Foundation Innovation project was implemented in Oct 2019 with 10 PwP from Plymouth taking part. A wider roll out of the pathway involving people in East Cornwall, West Devon and Plymouth is taking place in 2020, involving 150 patients. Embedded processes for evaluation and feedback inform continued development and refinement of the pathway.camille.carroll@plymouth.ac.uk
239  New de novo mutation in CACNA1a gene leading to episodic ataxia type 2
Authors: Coulden Amy , Wu Kit , Joe Dorothy , Watkins Susanne , Chaudhuri Kallol Ray , Sztriha Laszlo 
Published: May 2022

Introduction andAimEpisodic ataxia (EA) is a group of inherited ion channel disorders affecting the cer- ebellum characterised by sporadic episodes of ataxia (Riant et al, 2011; Tomlinson et al, 2013). At least 7 different types have been identified, type 2 being the most common. We describe a patient present- ing with recurrent episodes of dizziness and gait disturbance with a novel mutation in CACNA1a gene (c.586del) leading to episodic ataxia type 2.Clinical presentationA 65-year old male presented with recurrent episodes of dizziness and gait distur- bance, which had been present since childhood but increased in severity over last 2 years and leading to hospitalisation. He also reported mild cognitive impairment. Examination showed bilateral horizontal jerky nyastagmus with an otherwise normal neurological examination.InvestigationsNeuroimaging studies showed mild small vessel disease. Genetic sequencing revealed a heterogenicity for the c.586del likely pathogenic frameshift mutation in exon 4 of the CACNA1A gene, resulting in targeting of the mRNA for nonsense- mediated decay or the production of a truncated protein leading to the diagnosis of autosomal dominant episodic ataxic type 2 in this patient.SummaryWe report a new de novo mutation in CACNA1a gene leading to episodic ataxia type 2. The patient was given acetazolamide (250mg/day) which improved his symptoms. Episodic ataxia should be considered in patients presenting with a history of intermittent dizziness.kitwu@doctors.org.uk
244  Idiopathic anosmia with motor impairment – a unique prodrome of Parkinson’s?
Authors: Rees Richard N , Simonet Cristina , Noyce Alastair J , Schrag Anette 
Published: May 2022

IntroductionAnosmia is a recognised risk factor for Parkinson’s disease (PD), however, many of the causes are not neurodegenerative. We hypothesise that the prodromal phase of PD associated with idiopathic anosmia is predominantly motor and does not have other significant non-motor features.MethodsWe recruited individuals with idiopathic anosmia (IA) (confirmed by specialist ENT assessment) from across England. Participants from the PREDICT-PD study who were deemed to be low risk of future PD on the basis of scoring with an evidence-based algorithm were used as healthy-aging controls (HA). Patients with established PD were recruited from clinic. All participants had a comprehensive in-person assessment.ResultsWe assessed 75 participants (HA=21, IA=40, PD=14), who were well balanced in terms of age and education. There were more men in the PD group than in the other two groups.There was no difference in motor scores between the HA and IA groups in MDS-UPDRS-III scores (p=0.83), MOCA (p=0.06), RBDsq (p=0.39) or autonomic scores (p=0.20). When dividing IA into those with and without mild motor impairment (MMI; MDS-UPDRS-III ≥7), the IA-MMI group did not show overt non-motor differences compared to the HA group.DiscussionSome patients with IA present with motor dysfunction that is not associated with non-motor features. This has significance for understanding the variation in the prodromal phase of PD and poten- tially selecting patients for disease modifying trials.richard.n.rees@ucl.ac.uk
245  Cognitive function in patients with a long-standing diagnosis of SWEDD
Authors: Jesuthasan Aaron , Pavese Nicola 
Published: May 2022

IntroductionPatients with clinical features of Parkinson’s Disease (PD), but scans without evidence of dopaminergic deficit are termed SWEDDs. Only a portion of these patients retain their SWEDDs diagnosis later in life and are here regarded as ‘true SWEDDs’. Cognitive symptoms of ‘true SWEDDs’ remain unclear yet important to optimise their management. We used data from the Parkinson’s Progression Markers Initiative to investigate these further.MethodologyBaseline cognitive data of 25 SWEDDs, who retained diagnoses after 2 years of follow up (confirmed by normal 123I-FP-CIT SPECT scans), were compared with that of 62 de novo PD and 195 healthy control (HC) subjects. Data was analysed using SPSS Statistics.ResultsNo significant difference was found when comparing ‘true SWEDDs’ to de novo PD patients and HCs in tests of global cognition, visuospatial function, executive function and attention. However, Hopkins Verbal Learning Test-Revised (HVLT-R) showed a significant difference between the three groups (P=0.004), maintained when specifically analysing ‘true SWEDDs’ versus HCs (P=0.009).ConclusionOur data suggest a significant difference in memory function between ‘true SWEDDs’ and HCs, as demonstrated by the HVLT-R test. This suggests memory-stimulating therapies are important for managing ‘true SWEDDs’, however further work is required to validate these findings.aaronjesuthasan@gmail.com
250  Is primary writing tremor a forme fruste of dystonia?
Authors: Latorre Anna , Rocchi Lorenzo , Rothwell John , Bhatia Kailash 
Published: May 2022

ObjectiveTo investigate whether primary writing tremor (PWT) and dystonia share a common pathophysiology.BackgroundPWT is probably the most common form of task-specific tremor. Its pathophysiology is still debated and there is controversy about it being a type of focal dystonia, a variant of essential tremor or a separate entity.MethodsWe recruited 7 patients with PWT, who underwent the following neurophysiological tests: blink recovery cycle (BRC), eye-blink classical conditioning (EBCC), short and long-intracortical inhibition (SICI-LICI). Moreover, motor-evoked potentials (MEP), SICI and LICI were measured pre and post paired associative stimulation (PAS) plasticity paradigm. Data were compared with those obtained in 7 dystonic patients (DYT).ResultsData analysis for BRC showed a similar inhibition between DYT and PWT. There was no differ- ence between DYT and PWT in the number of conditioned response (CR) during. Baseline SICI and LICI were similar in the two patients’ group, but whereas they were unchanged in PWT after PAS, they were reduced in DYT.ConclusionsThe present results suggest that PWT and DYT have similar brainstem excitability and associa- tive learning. Cortical plasticity induced by PAS had a different effect on SICI and LICI in the two groups. Overall this data suggests that PWT and DYT share some pathophysiological mechanisms.a.latorre@ucl.ac.uk