bluuebunny/crossref_metadata_2025_split huggingface dataset:
065  Improving clinical care in patients with bilateral optic disc swelling presenting to ambulatory emergency care
Authors: Huang Yun , Hanbury Georgina , Baheerathan Aravindhan , Muhammed Louwai , Everitt Alex 
Published: May 2022

BackgroundDue to our proximity to the local eye casualty, patients with bilateral optic disc swelling (BODS) and an underlying diagnosis of idiopathic intracranial (IIH) are frequently referred to our ambu- latory emergency care (AEC) centre. The aim of this quality improvement project was to improve the consistency in our diagnostic approach and minimise time in hospital for patients referred with non-sight threatening BODS.MethodsAll patients who presented with BODS to AEC between 1 August to 31 December 2020 were included. Measurements included the recording of body mass index (BMI), investigations requested and total time in hospital. A pathway was developed based on an IIH guideline (1) and local resources.ResultsBaseline data revealed 14% of the patients had their BMI recorded, and that 7% had all of the recommended blood tests. Prospective analysis after pathway implementation showed 100% of patients had recorded BMI and appropriate blood tests requested to investigate secondary causes of IIH. There was no change in the total time in hospital.ConclusionThe introduction of a pathway for patients with BODS has improved the diagnostic approach for patients with suspected IIH. Further work is underway to assess possible interventions to reduce total time in hospital.1. Mollan SP, Hornby C, Mitchell J, Sinclair AJ. Evaluation and management of adult idiopathic intracranial hypertension. Pract Neurol. 2018;18(6):485–8.yun.huang@nhs.net
066  Utilising optical coherence tomography measures as surrogates for raised intracranial pressure in idiopathic intracranial hypertension
Authors: Vijay Vivek , Mollan Susan , Mitchell James , Alimajstorovic Zerin , Markey Keira , Walker Jessica , Lyons Hannah , Yiangou Andreas , Brock Kristian , Sinclair Alex 
Published: May 2022

AimTo determine whether Optical Coherence Tomography (OCT) of the optic nerve head in papil- loedema could act as a surrogate measure of intracranial pressure (ICP).MethodsThis is a longitudinal cohort study using data collected from three randomised controlled trials, between from April 1st, 2014 to August, 1st 2019. OCT imaging and automated perimetry was followed immediately by ICP measurement on the same day. Cohort 1 utilised continuous sitting telemetric ICP monitoring (Raumedic Neurovent P-tel device) on one visit. Cohort 2 were evaluated at baseline, 3, 12 and 24 months and underwent lumbar puncture assessment of ICP.Results104 patients were recruited. Amongst cohort 1 (n=15), the range of OCT protocols were evaluated and optic nerve head central thickness was found to be most closely associated with ICP (right eye: p=0.017, r = 0.60; left eye: p = 0.002; r = 0.73). Subsequently, cohort 2 (n=89) confirmed the correlation between central thickness and ICP longitudinally (12 and 24 months). Finally, bootstrap surrogacy analysis noted a positive association between central thickness and ICP treatment effects at all time points (e.g. at 12 months, an decrease in central thickness of 50µm predicted a decrease in ICP of 5 cmCSF).ConclusionOCT optic nerve head volume measures reproducibly correlates with ICP and surrogacy analysis demonstrated its ability to inform ICP changes. This data suggests that OCT can non-invasively predict ICP.soozmollan@doctors.org.uk58
072  Diffuse Astrocytoma as a radiological mimic of Neuro-Behcet’s Disease
Authors: Leahy Christopher , McNulty Philip , Herwadkar Amit , D’Urso Pietro , Cahill Varduhi 
Published: May 2022

We present a case of diffuse astrocytoma mimicking the radiological features of Neuro-Behcet’s disease. A 61 year old man presented with a progressive asymmetric brainstem syndrome (left>right). Examination of cranial nerves revealed a left lateral rectus palsy, a left trigeminal sensory loss V1-V3 and left lower motor facial palsy. There were no oral or genital ulcerations, no ophthalmic symptoms or signs and no skin rashes. MR imaging showed an asymmetric mesencephalic- diencephalic hyperintensity on T2 without contrast enhancement. Cerebrospinal fluid was within normal limits including large volume cytological exam. Whole body CT and FDG-PET demonstrated no evidence of malignancy. IV methylprednisolone (1g daily) for three days was given then a 60mg prednisolone taper.He subsequently developed a right hemiparesis and was found to have on repeat MR brain a new right prefrontal cortex lesion involving the middle frontal lobe, without contrast enhancement. Biopsy showed a IDH-1 wild-type diffuse astrocytoma. He was administered chemotherapy and whole brain radiotherapy with no interval changes at 2 month follow up. Our case highlights a rare and important presentation of diffuse astrocytoma masquerading as rhombencephalitis syndrome. Timely brain biopsy allows for prompt intervention and improved performance status.christopherleahy@doctors.org.uk61
074  COVID-19 as a cause of coma in adult onset vanishing white matter disease
Authors: Leddy Sara , Barden Steven , Skipper Nicholas , Saha Romi 
Published: May 2022

A 34 year old female presented with fever, diarrhoea, confusion, and a decline in mobility, having recently tested positive for COVID-19. Her medical history included patent foramen ovale, primary ovarian failure and leukoencephalopathy which had been investigated in her 20s leading to a clinical diagnosis of Vanishing White Matter disease (VWM). On admission she deteriorated rapidly with decreased GCS requiring frequent critical care review. MRI demonstrated mild progression of the cerebral atrophy and slight increase in the “cystic” changes in the white matter. Lumbar puncture was unremarkable. EEG demonstrated widespread cerebral dysfunction with frontotemporal emphasis but without seizure activity. She was managed with supportive care recovering to her baseline function within days. VWM is a leukodystrophy caused by recessive mutations in eukaryotic initiation factor 2B (eIF2b) complex. Adult onset presentations have been described which have a slowly progressive course. Patients with VWM are known to rapidly decline with fever, and mild head injury occasionally resulting in coma. Our case high- lights the potentially devastating effects of a neurotropic virus such as COVID-19 in VWM, and the need to consider rare genetic disorders in adult patients presenting with extensive white matter abnormalities on MRI and premature ovarian failure.saraleddy1@nhs.net|ABN Bursary62
Biological and clinical manifestations of Huntington’s disease in gene carriers very far from predicted onset
Authors: Zeun P , Scahill RI , Osborne-Crowley K , Johnson EB , Gregory S , Parker C , Lowe J , Sampaio C , Zhang H ,   et al
Published: May 2022

IntroductionCrucial to the future success of treatments in Huntington’s disease is identifying a timepoint where there is a measurable biomarker of early neurodegeneration without detectable changes in clinical function. By performing deep phenotyping in premanifest gene carriers (preHD) further from predicted onset than previously studied, we aimed to identify this timepoint and the best measures for efficacy endpoints in future therapeutic trials.MethodsWe recruited 64 young adult preHD, approximately 24 years from predicted clinical onset, and 67 matched controls. All participants underwent detailed cognitive and neuropsychiatric assessments, multi-modal imaging and collection of blood and cerebrospinal fluid (CSF).ResultsWe found no significant evidence of cognitive or psychiatric impairment in preHD (minimum q>0.22). The PreHD cohort had smaller putamen volumes (q=0.03), but this was not related to predicted years to onset. There were no group differences in other brain imaging measures (q>0.16). CSF and plasma neurofilament light (NfL) (q<0.0001 and q=0.01) and YKL-40 (q=0.03) were elevated in preHD.ConclusionWith normal brain function but with sensitive measures of neurodegeneration starting to rise, this stage of preHD may represent an optimal time to initiate future disease-modifying prevention treatments. CSF NfL appears more sensitive at this time than plasma NfL to monitor treatment response.p.d.zeun@gmail.com
082  Experiences of remote consulting for neurologists and patients during the COVID-19 pandemic: a national survey
Authors: Stavrou Maria , Eva Lioutas , Joanna Lioutas , Davenport Richard 
Published: May 2022

Remote consulting is an emerging model in managing chronic neurological conditions and has been widely implemented during the COVID-19 pandemic. The main objective of this national survey was to investigate the initial experiences of remote consulting for neurologists and patients with chronic neuro- logical conditions during the first COVID-19 phase.In collaboration with the Scottish Association of Neurological Sciences and the Neurological Alliance of Scotland, we conducted a survey of 62 neurologists and 201 patients between October-November 2020.The overall consensus amongst neurologists was that remote consulting is a way of delivering healthcare efficiently in carefully selected groups of patients. For practical and technical reasons, there was signifi- cantly greater preference for phone over video consultations. The prevailing opinion was that consider- able ongoing effort is required to adapt and align structures, processes and neurology specialty training to successfully embed this new model of care.The vast majority of patients perceived remote consultations as safe, effective and convenient, with 89% patients being satisfied with their remote consultation experience. Although traditional face-to-face consultations were the favoured way of interaction for 62% of patients, a significant proportion preferred that some of their future consultations were performed remotely.Although not a replacement for face-to-face consultations, this survey illustrates that remote consulting can serve as an acceptable adjunct to traditional face-to-face consultations for doctors and patients. More research is required to identify its safety and applicability.mstavrou@ed.ac.uk|NIHR Bursary66
Biallelic mutations in sord are a common cause of potentially treatable genetic neuropathy
Authors: Cortese Andrea , Zhu Yi , Rebelo Adriana , Negri Sara , Courel Steve , Abreu Lisa , Bacon Chelsea J , Bai Yunhong , Bis-Brewer Dana M ,   et al
Published: May 2022

IntroductionAs opposed to CMT1, for which over 90% of cases have mutations in known genes, only 20–30% of CMT2/dHMN patients receive a genetic diagnosis. Since up to 70% of CMT2 and dHMN cases are sporadic, identifying candidate pathogenic genes from single cases remains challenging also for next-generation sequencing techniques.MethodsWe took advantage of the largest collection of over 1,100 CMT patients in whom WES and/or WGS has been performed in the GENESIS analysis platform. We specifically looked for genes for which significant DNA variants are present in multiple families as well as for individual alleles overrepresented in CMT cases.ResultsWe identified 45 cases from 38 families across multiple ethnicities, carrying a particular nonsense mutation in SORD, c.753delG;p.Ala253GlnfsTer27, either in homozygous or compound heterozygous state with a second variant. With an allele frequency of 0.004 in healthy controls, the p.Ala253GlnfsTer27 variant represents one of the most common pathogenic alleles in humans. SORD is an enzyme that converts sorbitol into fructose, in the two-step polyol pathway that has been implicated in diabetic neuropathy. In patient-derived fibroblasts, we find a complete loss of SORD protein and increased intracellular sorbitol. Also, as a biomarker, serum fasting sorbitol level was over 100 times higher in patients compared to healthy individuals. In Drosophila, we show that loss of SORD orthologues causes synaptic degeneration and progressive motor impairment. Reducing the polyol influx by treatment with aldose reductase inhibi- tors normalized intracellular sorbitol levels in patient fibroblasts and in Drosophila, and also dramatically ameliorated motor and eye phenotypes.ConclusionsWe demonstrate biallelic mutations in sorbitol dehydrogenase (SORD) as the most frequent recessive form of hereditary neuropathies. These findings establish a potentially treatable cause in a sig- nificant fraction of patients with inherited neuropathies and may contribute to a better understanding of the pathophysiology of diabetic neuropathy.andrea.cortese@ucl.ac.uk
092  Eliciting the hidden symptoms in multiple sclerosis
Authors: Kurup Meenakshi , Williams Lesley , Davis Elizabeth 
Published: May 2022

PurposeThe hidden symptoms of Multiple sclerosis (MS) adversely impact on patients’ quality of life. NICE recommends that “service professionals in regular contact with people with MS, should consider in a systematic way whether a ‘hidden’ problem is contributing to their clinical situation.” Our aim was to compare trust practice at Walkergate Park Hospital with NICE CG186 guidelines by determining the number of hidden MS symptoms addressed by MS specialists in the outpatient setting.MethodsA retrospective audit was performed from August to October 2018 on 126 MS patients seen in 34 clinics at Walkergate Park Hospital. Data was collected from clinic letters and MS review proformas going one year back.ResultsThe mean number of clinic visits for patients within their most recent year of follow up was 1.76 (SD 0.709). The most elicited hidden symptom was bladder symptoms, followed by bowel symptoms discussed in 91.3% and 90.5% of consultations, respectively. The least commonly elicited hidden symptom was on sex and relationships, followed by advanced care planning (addressed in 16.0% and 23.8% of consultations, respectively). On average, 62.6% (SD 25.1) of 17 hidden symptoms were addressed.ConclusionHidden symptoms may not be volunteered by patients and it is important they are addressed in the clinical context. Areas for improvement include the discussion of sex and relationships and advance care planning to ensure quality of care for MS patients.meenakshi3@hotmail.co.uk71
103  Virtual multiple sclerosis (MS) clinics during a global pandemic: the patients’ perspective
Authors: Ramsay Stephen , Turley Niamh , Magill Fiona , Goldsmith Grainne , McKee Jon , Kennedy Fiona , Droogan Aidan , Hughes Stella , McDonnell Gavin 
Published: May 2022

BackgroundWithin our service, all scheduled face-to-face neurology clinics were cancelled from March 2020 due to Covid-19. Telephone reviews were initiated to provide continuity of MS care.ObjectiveTo assess patient satisfaction with MS telephone clinics during the pandemic and opinion regarding potential future use.Design/MethodsAnonymised questionnaires were posted to 635 patients receiving MS specialist medical telephone review, March to July 2020.Results279 (44%) patient questionnaires were returned, mean age 49 years, 72% female, 87% having an EDSS <7.0. On a rating scale, (0–10, 10 = completely satisfied), 95% of patients reported a satisfaction score ≥7. For 99% of patients, clinical interaction was caring/sensitive by telephone. Satisfaction was high with: call duration (96%), opportunity to ask questions (99%) and understanding advice given (98%). During the pandemic, 87% of patients preferred the virtual appointment. Of all patients, 45% expressed preference for telephone review moving forward, rising to 55% among both wheelchair-using patients and those living >50 miles from clinic. Many felt that video call would further improve virtual review (54%).ConclusionsDuring the COVID-19 pandemic, satisfaction is high with MS review by telephone. A signifi- cant body of patient opinion supports telephone clinics beyond Covid-19. This is influenced by EDSS and distance from clinic.sramsay03@qub.ac.uk|ABN Bursary
105  Beyond diagnosis: patient perception of lumbar puncture for clinical management and/or research studies
Authors: Robinson Rebecca , Kee Rachael , Ramsay Stephen , McKee Jon , Kennedy Fiona , Middleton Rod , Rodgers Jeff , Nicholas Richard , McDonnell Gavin , Hughes Stella 
Published: May 2022

BackgroundGiven the expanding utility of cerebrospinal fluid biomarkers in clinical practice and research studies, it may become desirable to offer repeat lumbar puncture (LP) beyond diagnosis. Using the United Kingdom Multiple Sclerosis Register (UKMSR), we assessed patient attitude to LP beyond the diagnostic stage.Design/MethodsAn online questionnaire was designed and over 11,000 patients were invited to partici- pate. For specific questions, participants indicated willingness for LP on a Likert scale (0–10).ResultsAlmost 2500 patients completed the questionnaire and over half had relapsing remitting MS. Of the 1089 participants on disease-modifying treatment, almost 60% indicated feeling neutral-to-agreeable to having LP to evaluate treatment efficacy or evidence of relapse. Interestingly, those indicating complete willingness represented the modal point on the scale. Respondents were only slightly less receptive to undergoing LP for research, with just under half still neutral-to-agreeable. We did not observe an influence of age or sex on willingness for LP for either indication.ConclusionsSerial LPs may become informative in evaluating for active MS throughout the disease course. We found that patients on treatment are quite agreeable to considering LP for clinical evaluation. Perhaps understandably, respondents were slightly less willing to have LP solely for research purposes.rrobinson17@qub.ac.uk
107  The UK multiple sclerosis service and DMT prescribing audit of 70 centres: overview
Authors: Rog David , Hobart Jeremy , Mathews Joela ,   Raising the Bar for 4 MS UK Study Group
Published: May 2022

IntroductionWhilst GIRFT highlights long-recognised variations in MS service provision and disease modifying treatments (DMTs) prescribing, sources of variations weren’t explored.AimThe UK MS Service and Prescribing Audit was undertaken to better understand MS care, contextualise sources of variation and facilitate service development.MethodsWe asked all MS services to complete service questionnaires, supplemented with individ- ual clinician interviews covering; caseload, databases, staffing, neuroradiology, MDT, coping. We also requested anonymised blueteq or internal DMT prescribing data for 12 months to 31st March 2019.Results70 MS services participated. They care for >105,522 people with MS, ≈85% of the estimated UK MS population. To date, 49 MS services have provided DMT prescribing data for over 21,000 patients, a combined spend of over £261 million in the financial year to March 31st 2019. Consistent findings, detailed in five other abstracts, include: high caseloads, inconsistent team structures, low staffing levels, limited data collection and usage and access to support services.ConclusionsThis audit illustrates significant engagement from the UK MS community, with a representa- tive sample, providing a real opportunity to effect change. We recommend working across the UK MS network with multiple stakeholders to (1) maximise influence for change, (2) develop new ways of working to deal with workload, including enhancing data maturity and optimise team structures, and (3) build MS team resilience and sustainability.Acknowledgement.Neurology Academy david.rog@srft.nhs.uk
112  Updated analysis of pregnancy outcomes in a dimethyl fumarate exposure registry
Authors: Hellwig Kerstin , Rog David , McGuigan Christopher , Mokliatchouk Oksana , Branco Filipe , Peng Xiaomei , Everage Nicholas 
Published: May 2022

IntroductionDimethyl fumarate (DMF) is not recommended for use during pregnancy and should only be used if the potential benefit justifies the potential foetal risk. Given limited pregnancy data, the UK and Ireland have enrolled DMF-exposed pregnant women in an ongoing international registry assessing pregnancy outcomes. Generally, pregnancies end in live birth (62%), abortion (22%), or foetal loss (16%), with similar rates in MS patients.MethodsPregnant women with MS exposed to DMF since the first day of their last menstrual period before conception/during pregnancy were included. UK/Ireland Coordinating Centres liaise directly with patients and healthcare providers.ResultsAs of May 2020, 345 patients (18 UK/Ireland) were enrolled. Of the reported 351 pregnancy outcomes (18 UK/Ireland), 277 (79%) represented live births (17 UK/Ireland) and 74 (21%) foetal loss. Of infants with known gestational age (n=274), 249 births (91%) were full-term (17 UK/Ireland) and 25 (9%) premature (<37 weeks). There were 17 spontaneous abortions (1 each ectopic and molar pregnancy) and 1 foetal death (at >28 weeks). No infant or maternal deaths were reported. Ten infants (4%) (2 UK/Ireland) had confirmed birth defects.ConclusionsObserved safety signals were consistent with MS and general populations.SupportBiogen. Disclosures: Included on poster 81david.rog@srft.nhs.uk
123  A case of primary angiitis of central nervous system presenting with cerebral haemorrhage
Authors: Chun Strathan , Lee Pei Ling , McClusky Lauren , Appleton Jason 
Published: May 2022

We report an interesting case of a previously fit and well 27-year-old man who initially presented with seizure to his local district general hospital. A series of investigations including a CT head, CT angiogram and a lumbar puncture were performed but no formal diagnosis was confirmed. He was discharged with a label of multifocal primary intracerebral haemorrhage of unknown aetiology. He was discharged to a Neurological Rehabilitation Unit where he was undergoing intensive rehabilitation.Twelve months later he represented to our regional neuroscience centre with status epilepticus char- acterised by multiple generalised tonic-clonic seizures and reduced level of consciousness. He required intensive care admission and was investigated extensively with multiple diagnostic techniques, including; a CT head, CT venogram, CT angiogram, MRI and a lumbar puncture. Following a long admission the diagnosis of PACNS was made with confirmatory positive histopathology findings.Unfortunately, the pre-existing neurological deficits and functional disabilities are likely to persist indefi- nitely. The patient was managed with immunosuppressant to reduce recurrence of disease aiming to prevent further decline.dinochun@hotmail.com
136  Coincidential hydrocephalus in twins with CMT1X
Authors: Doherty Carolynne , Pipis Menelaos , Hosktote Chandrashekar , Rossor Alexander , Reilly Mary 
Published: May 2022

BackgroundThe association of CMT1X with white matter abnormalities and “stroke like episodes” has long been recognised, and a recent review of the 133 patients with CMT1X in our cohort found that 10/26 MRI brain scans showed white matter abnormalities.(1) The literature describes very occasional patients who have any type of CMT and hydrocephalus.CasesA pair of monozygotic twins have the p.Trp24Cys GJB1 mutation which segregates with CMT in their family, with recognised phenotypic variability in the women, attributable to X-inactivation. One of the twins presented in their 20’s with headache and visual obscurations due to hydrocephalus resulting from decompensation of a previously diagnosed aqueductal stenosis. The second twin had migraine at age 27, an MRI identified lateral and third ventricular dilatation due to focal narrowing with an aqueductal web. An endoscopic third ventriculocysternostomy was performed. An affected cousin with the family GJB1 mutation has normal brain imaging.DiscussionDespite the finding of hydrocephalus in both affected twins, further family evaluation confirmed the hydrocephalous not to segregate with the GJB1 mutation. This highlights the importance of detailed phenotype segregation studies before diagnosing an atypical phenotype with genetic diseases. Alterna- tive genetic causes for the hydrocephalus are being sought.1) Vivekanandam V, Hoskote C, Rossor AM, Reilly MM. CNS phenotype in X linked Charcot- Marie-Tooth disease. J Neurol Neurosurg Psychiatry 2018 Dec 5;90(9).carolynnedoherty@doctors.org.uk|NIHR Bursary93