Andrew G L Douglas, Alexander G Thompson, Martin R Turner, Kevin Talbot
{"title":"Personalised penetrance estimation for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia","authors":"Andrew G L Douglas, Alexander G Thompson, Martin R Turner, Kevin Talbot","doi":"10.1136/bmjno-2024-000792","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000792","url":null,"abstract":"Background C9orf72 hexanucleotide repeat expansions are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in European populations. Variable disease penetrance between families presents a challenge for genetic counselling of at-risk relatives and reduces the predictive utility of testing asymptomatic relatives. We have developed a novel model for estimating penetrance in individual families affected by C9orf72 using available family history information, allowing the calculation of personalised risk estimates.Methods Published aggregated age-of-onset data for C9orf72-related ALS/FTD were used to generate age-related cumulative relative risks for at-risk relatives within pedigrees. Age-related relative risks are combined with a priori chance of individuals carrying an expansion based on known pedigree information. Penetrance is calculated as a number of affected individuals divided by the sum of cumulative age-related risks of relatives being affected by 80 years.Results This method allows family-specific penetrance to be estimated from family history and at-risk relatives’ personalised age-related ALS/FTD risks to be calculated and illustrated graphically. Penetrance reduces as the number and age of at-risk unaffected relatives increases.Conclusions Family history remains the best indicator of penetrance in C9orf72 expansion carriers. Calculating family-specific penetrance can aid genetic counselling by allowing at-risk relatives a more accurate understanding of their individual risk.","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kevin Young Xu, Fábio A Nascimento, Binx Yezhe Lin, Tae Woo Park, Donovan T Maust, Hillary Samples, Greta A Bushnell
{"title":"Benzodiazepine receipt in adults with psychogenic non-epileptic seizures in the USA","authors":"Kevin Young Xu, Fábio A Nascimento, Binx Yezhe Lin, Tae Woo Park, Donovan T Maust, Hillary Samples, Greta A Bushnell","doi":"10.1136/bmjno-2024-000767","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000767","url":null,"abstract":"Background Characterising benzodiazepine (BZD) prescribing to individuals with psychogenic non-epileptic seizures (PNES) is important for optimising PNES outcomes, but existing data is lacking.Methods Using a nationwide administrative claims database (2016–2022), incident PNES was defined as an International classification of diseases, tenth revision, clinical modification (ICD-10-CM) diagnosis in an inpatient or outpatient healthcare encounter after a 1-year period with no documented diagnosis. We described clinical characteristics of adults with incident PNES and estimated the prevalence of outpatient BZD treatment in the baseline year and 30-day follow-up period, with secondary analyses stratifying by baseline ES, anxiety and/or insomnia diagnoses, representing common indications for BZD receipt. We used logistic regression to evaluate predictors of post-PNES BZD receipt.Results Among 20 848 adults with incident PNES diagnosis, 33.1% and 15.1% received BZDs in the year and month prior to PNES diagnosis, respectively, and 18.1% received BZDs in the month following a PNES diagnosis; 5.4% of those without prior BZD prescriptions received BZDs after diagnosis. The median days’ supply was 30 days, with clonazepam, alprazolam and lorazepam representing the most common BZDs prescribed after PNES. Most people who received BZDs in the month prior to PNES diagnosis remained on BZDs in the month after PNES diagnosis (62.9%), with similar findings in the subcohorts without ES, anxiety and/or insomnia. Baseline BZD receipt and anxiety disorders, but not baseline ES diagnoses, were strong independent predictors of post-PNES BZD receipt.Conclusions While new BZD initiation is rare after PNES, most individuals with BZD scripts 1 month before PNES continue scripts after diagnosis.","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nevin John, Yingtong Li, Floriana De Angelis, Jonathan Stutters, Ferran Prados Carrasco, Arman Eshaghi, Anisha Doshi, Alberto Calvi, Thomas Williams, Domenico Plantone, Thanh Phan, Frederik Barkhof, Jeremy Chataway, , Sebastien Ourselin, Marie Braisher, Tiggy Beyene, Vanessa Bassan, Alvin Zapata, Siddharthan Chandran, Peter Connick, Dawn Lyle, James Cameron, Daisy Mollison, Shuna Colville, Baljean Dhillon, Moira Ross, Gina Cranswick, Allan Walker, Lorraine Smith, Gavin Giovannoni, Sharmilee Gnanapavan, Richard Nicholas, Waqar Rashid, Julia Aram, Helen Ford, Sue H Pavitt, James Overell, Carolyn Young, Heinke Arndt, Martin Duddy, Joe Guadagno, Nikolaos Evangelou, Matthew Craner, Jacqueline Palace, Jeremy Hobart, Basil Sharrack, David Paling, Clive Hawkins, Seema Kalra, Brendan McLean, Nigel Stallard, Roger Bastow
{"title":"Brain reserve and physical disability in secondary progressive multiple sclerosis","authors":"Nevin John, Yingtong Li, Floriana De Angelis, Jonathan Stutters, Ferran Prados Carrasco, Arman Eshaghi, Anisha Doshi, Alberto Calvi, Thomas Williams, Domenico Plantone, Thanh Phan, Frederik Barkhof, Jeremy Chataway, , Sebastien Ourselin, Marie Braisher, Tiggy Beyene, Vanessa Bassan, Alvin Zapata, Siddharthan Chandran, Peter Connick, Dawn Lyle, James Cameron, Daisy Mollison, Shuna Colville, Baljean Dhillon, Moira Ross, Gina Cranswick, Allan Walker, Lorraine Smith, Gavin Giovannoni, Sharmilee Gnanapavan, Richard Nicholas, Waqar Rashid, Julia Aram, Helen Ford, Sue H Pavitt, James Overell, Carolyn Young, Heinke Arndt, Martin Duddy, Joe Guadagno, Nikolaos Evangelou, Matthew Craner, Jacqueline Palace, Jeremy Hobart, Basil Sharrack, David Paling, Clive Hawkins, Seema Kalra, Brendan McLean, Nigel Stallard, Roger Bastow","doi":"10.1136/bmjno-2024-000670","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000670","url":null,"abstract":"Background The brain reserve hypothesis posits that larger maximal lifetime brain growth (MLBG) may confer protection against physical disability in multiple sclerosis (MS). Larger MLBG as a proxy for brain reserve, has been associated with reduced progression of physical disability in patients with early MS; however, it is unknown whether this association remains once in the secondary progressive phase of MS (SPMS). Our aim was to assess whether larger MLBG is associated with decreased physical disability progression in SPMS.Methods We conducted a post hoc analysis of participants in the MS-Secondary Progressive Multi-Arm Randomisation Trial ( NCT01910259), a multicentre randomised placebo-controlled trial of the neuroprotective potential of three agents in SPMS. Physical disability was measured by Expanded Disability Status Scale (EDSS), 9-hole peg test (9HPT) and 25-foot timed walk test (T25FW) at baseline, 48 and 96 weeks. MLBG was estimated by baseline intracranial volume (ICV). Multivariable time-varying Cox regression models were used to investigate the association between MLBG and physical disability progression.Results 383 participants (mean age 54.5 years, 298 female) were followed up over 96 weeks. Median baseline EDSS was 6.0 (range 4.0–6.5). Adjusted for covariates, larger MLBG was associated with a reduced risk of EDSS progression (HR 0.84,95% CI:0.72 to 0.99;p=0.04). MLBG was not independently associated with time to progression as measured by 9HPT or T25FW.Conclusion Larger MLBG is independently associated with physical disability progression over 96 weeks as measured by EDSS in SPMS. This suggests that MLBG as a proxy for brain reserve may continue to confer protection against disability when in the secondary progression phase of MS.Trail registration number NCT01910259.","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142202791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sameen Haque, Karen Crawley, Deborah Schofield, Rupendra Shrestha, Ryan Davis, Carolyn M Sue
{"title":"Social provisions in patients with mitochondrial diseases","authors":"Sameen Haque, Karen Crawley, Deborah Schofield, Rupendra Shrestha, Ryan Davis, Carolyn M Sue","doi":"10.1136/bmjno-2024-000770","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000770","url":null,"abstract":"Background Mitochondrial diseases often follow a chronic, multimorbid disease course in adults. Like other chronic conditions, mitochondrial diseases present a challenge to public and community health models and patients are potentially at higher risk of social isolation and loneliness. However, there is lack of data on social provisions in mitochondrial diseases.Methods We performed a cross-sectional observational study on patients with a confirmed genetic or clinical diagnosis of mitochondrial disease, recruited between September 2018 and December 2021. Participants completed the Social Provisions Scale (SPS) as a measure of social support. Designated carers similarly completed the SPS in carer-specific questionnaires.Results 95 mitochondrial disease patients and 24 designated carers completed the SPS. Social provisions were met for all six subscales of SPS in the mitochondrial disease cohort: (1) guidance 90.5% (n=86), (2) reassurance of self-worth 82.8% (n=77), (3) social integration 88.4% (n=84), (4) attachment 83.2% (n=79), (5) opportunity of nurturance, 61.1% (n=58) and (6) reliable alliance 95.8% (n=91). All social provisions were also met in the carer cohort.Conclusion Patients with mitochondrial diseases and their carers demonstrate a high perceived level of social support in the setting of a tertiary referral centre specialised in mitochondrial disease despite the burden of chronic disease.","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142202816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Neurology OpenPub Date : 2024-08-30eCollection Date: 2024-01-01DOI: 10.1136/bmjno-2024-000796
Jiyoung Gwak, Jinse Park
{"title":"Effect of acceptance and commitment therapy on fear of falling and physical activity in Parkinson's disease: a randomised controlled trial.","authors":"Jiyoung Gwak, Jinse Park","doi":"10.1136/bmjno-2024-000796","DOIUrl":"10.1136/bmjno-2024-000796","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to evaluate the efficacy of acceptance and commitment therapy (ACT) in reducing the fear of falling (FOF) and promoting physical activity in individuals diagnosed with Parkinson's disease (PD).</p><p><strong>Methods and analysis: </strong>This is a prospective, multicentre, rater-blinded and randomised controlled trial. Patients with PD and a history of falls will be randomly assigned to either an 8-week ACT intervention group or a control group receiving standard care. The primary outcomes measured will include FOF assessment using the Falls Efficacy Scale-International and physical activity levels measured via wearable sensor devices. Secondary outcomes will encompass the assessment of motor function, balance and fall frequency using the Movement Disorder Society Unified Parkinson's Disease Rating Scale, Berg Balance Scale and Timed Up and Go test. Objective measures of balance and physical activity will be obtained through static posturography and wearable sensors over a 3-day period, both before and after the intervention. Data will be analysed using mixed-effects models to evaluate the impact of ACT on FOF and physical activity.</p><p><strong>Ethics and dissemination: </strong>We hypothesised that ACT would lead to a significant reduction in FOF and an increase in physical activity levels compared with standard care. Additionally, this study will also examine the relationship between reduced FOF and improvements in balance and motor function. Our results will provide valuable evidence to support the effectiveness of ACT in reducing FOF and promoting physical activity among patients with PD, and if validated, ACT could be recommended as a beneficial intervention to enhance the quality of life and reduce fall-related morbidity in patients with PD.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11367376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142121052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Samuel Gibbon, Fergus Doubal, Francesca Chappell, Joanna M Wardlaw, Baljean Dhillon, Thomas MacGillivray
{"title":"Association between optic disc pallor and lacunar stroke","authors":"Samuel Gibbon, Fergus Doubal, Francesca Chappell, Joanna M Wardlaw, Baljean Dhillon, Thomas MacGillivray","doi":"10.1136/bmjno-2024-000789","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000789","url":null,"abstract":"Objective To test for associations between optic disc pallor and two clinical variables: ischaemic stroke subtype (cortical and lacunar) and cerebral small vessel disease (SVD) scores in a cohort of hospital patients admitted with mild stroke (Mild Stroke Study 1).Methods We used previously validated software, PallorMetrics, to quantify optic disc pallor in colour fundus photographs of patients diagnosed as having either cortical (n=92) or lacunar (n=92) stroke. We used logistic regression to assess the relationship between stroke type and disc pallor in several zones and ordinal logistic regression to assess the relationship between disc pallor and total SVD score. The left and right eyes were analysed separately.Results In the right eye, independent of age, sex, disc area, hypertension and diabetes, increased optic disc pallor was significantly associated with lacunar stroke in all zones (for global pallor: OR per SD increase=1.55, 95% CI 1.11 to 2.17, p=0.011) and total SVD score in the temporal superior (standardised β=0.36, SE=0.15, p=0.020) and nasal-inferior zones (standardised β=0.44, SE=0.15, p=0.004) in the right eye. Weaker trends were observed in the left eye; however, these did not reach statistical significance.Conclusion Optic disc pallor may be associated with SVD severity and lacunar stroke, which may reflect vascular damage to the optic nerve or its pathways. Our findings underscore the utility of colour fundus photography to learn more about SVD pathology.","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142202815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Valeriya Kuznetsova, Harsh Oza, Hannah Rosenfeld, Carmela Sales, Samantha van der Linde, Izanne Roos, Stefanie Roberts, Fiore D’Aprano, Samantha M Loi, Mark Dowling, Michael Dickinson, Tomas Kalincik, Simon J Harrison, Mary Ann Anderson, Charles B Malpas
{"title":"Neuropsychological outcomes of patients with haematological malignancies undergoing chimeric antigen receptor T-cell therapy: protocol for a prospective study","authors":"Valeriya Kuznetsova, Harsh Oza, Hannah Rosenfeld, Carmela Sales, Samantha van der Linde, Izanne Roos, Stefanie Roberts, Fiore D’Aprano, Samantha M Loi, Mark Dowling, Michael Dickinson, Tomas Kalincik, Simon J Harrison, Mary Ann Anderson, Charles B Malpas","doi":"10.1136/bmjno-2024-000800","DOIUrl":"https://doi.org/10.1136/bmjno-2024-000800","url":null,"abstract":"Introduction Immune effector cell-associated neurotoxicity syndrome (ICANS) is a common side-effect of chimeric antigen receptor T-cell (CAR-T) therapy, with symptoms ranging from mild to occasionally life-threatening. The neurological, cognitive, psychiatric and psychosocial sequelae of ICANS are diverse and not well defined, posing a challenge for diagnosis and management. The recovery trajectory of the syndrome is uncertain. Patients are rarely examined in this population pretherapy, adding a layer of complexity to specifying symptoms pertinent solely to CAR-T treatment. We present a protocol of a prospective longitudinal research study of adult patients in a single Australian haematology service undergoing CAR-T therapy. The study will describe neurocognitive features specific to ICANS, characterise the underlying syndrome, capture recovery, identify predictors of differential postinfusion outcomes and determine a set of cognitive instruments necessary to monitor patients acutely.Methods and analysis This is a prospective longitudinal study that comprises neuropsychological and neurological examinations occurring prior to CAR-T, during the acute post-treatment period, 28 days, 6 months and 12 months post infusion. Data will be sourced from objective psychometric measures, clinical examinations, self-report questionnaires of psychopathology and accounts of subjective cognitive complaint.Ethics and dissemination This study aims to guide diagnosis, management and monitoring of neurocognitive features of CAR-T cell therapy. Results of this study will be disseminated through publication in peer-reviewed journals and presentations at scientific conferences. All procedures involving human subjects/patients were approved by the Peter MacCallum Cancer Centre Human Research Ethics Committee (21/145).","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.7,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142202718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Neurology OpenPub Date : 2024-08-21eCollection Date: 2024-01-01DOI: 10.1136/bmjno-2024-000765
Alexandra Astner-Rohracher, Alyssa Ho, John Archer, Fabrice Bartolomei, Milan Brazdil, Melita Cacic Hribljan, James Castellano, Irena Dolezalova, Martin Ejler Fabricius, Mercedes Garcés-Sanchez, Kahina Hammam, Akio Ikeda, Kristin Ikeda, Philippe Kahane, Giridhar Kalamangalam, Gudrun Kalss, Mays Khweileh, Katsuya Kobayashi, Patrick Kwan, Joshua Andrew Laing, Markus Leitinger, Samden Lhatoo, Julia Makhalova, Aileen McGonigal, Iona Mindruta, Mary Margaret Mizera, Andrew Neal, Irina Oane, Prachi Parikh, Piero Perucca, Francesca Pizzo, Rodrigo Rocamora, Philippe Ryvlin, Victoria San Antonio Arce, Stephan Schuele, Andreas Schulze-Bonhage, Ana Suller Marti, Alexandra Urban, Vincente Villanueva, Laura Vilella Bertran, Benjamin Whatley, Sandor Beniczky, Eugen Trinka, Georg Zimmermann, Birgit Frauscher
{"title":"Prognostic value of the 5-SENSE Score to predict focality of the seizure-onset zone as assessed by stereoelectroencephalography: a prospective international multicentre validation study.","authors":"Alexandra Astner-Rohracher, Alyssa Ho, John Archer, Fabrice Bartolomei, Milan Brazdil, Melita Cacic Hribljan, James Castellano, Irena Dolezalova, Martin Ejler Fabricius, Mercedes Garcés-Sanchez, Kahina Hammam, Akio Ikeda, Kristin Ikeda, Philippe Kahane, Giridhar Kalamangalam, Gudrun Kalss, Mays Khweileh, Katsuya Kobayashi, Patrick Kwan, Joshua Andrew Laing, Markus Leitinger, Samden Lhatoo, Julia Makhalova, Aileen McGonigal, Iona Mindruta, Mary Margaret Mizera, Andrew Neal, Irina Oane, Prachi Parikh, Piero Perucca, Francesca Pizzo, Rodrigo Rocamora, Philippe Ryvlin, Victoria San Antonio Arce, Stephan Schuele, Andreas Schulze-Bonhage, Ana Suller Marti, Alexandra Urban, Vincente Villanueva, Laura Vilella Bertran, Benjamin Whatley, Sandor Beniczky, Eugen Trinka, Georg Zimmermann, Birgit Frauscher","doi":"10.1136/bmjno-2024-000765","DOIUrl":"10.1136/bmjno-2024-000765","url":null,"abstract":"<p><strong>Introduction: </strong>Epilepsy surgery is the only curative treatment for patients with drug-resistant focal epilepsy. Stereoelectroencephalography (SEEG) is the gold standard to delineate the seizure-onset zone (SOZ). However, up to 40% of patients are subsequently not operated as no focal non-eloquent SOZ can be identified. The 5-SENSE Score is a 5-point score to predict whether a focal SOZ is likely to be identified by SEEG. This study aims to validate the 5-SENSE Score, improve score performance by incorporating auxiliary diagnostic methods and evaluate its concordance with expert decisions.</p><p><strong>Methods and analysis: </strong>Non-interventional, observational, multicentre, prospective study including 200 patients with drug-resistant epilepsy aged ≥15 years undergoing SEEG for identification of a focal SOZ and 200 controls at 22 epilepsy surgery centres worldwide. The primary objective is to assess the diagnostic accuracy and generalisability of the 5-SENSE in predicting focality in SEEG in a prospective cohort. Secondary objectives are to optimise score performance by incorporating auxiliary diagnostic methods and to analyse concordance of the 5-SENSE Score with the expert decisions made in the multidisciplinary team discussion.</p><p><strong>Ethics and dissemination: </strong>Prospective multicentre validation of the 5-SENSE score may lead to its implementation into clinical practice to assist clinicians in the difficult decision of whether to proceed with implantation. This study will be conducted in accordance with the Tri-Council Policy Statement: Ethical Conduct for Research Involving Humans (2014). We plan to publish the study results in a peer-reviewed full-length original article and present its findings at scientific conferences.</p><p><strong>Trial registration number: </strong>NCT06138808.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11340713/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
BMJ Neurology OpenPub Date : 2024-08-06eCollection Date: 2024-01-01DOI: 10.1136/bmjno-2024-000738
Peter Dudley, Jan Paul Marquez, Fiona Farrell, Jennifer Benson, Fergus Rugg-Gunn, Meneka K Sidhu, Suzanne O'Sullivan, Matthew Walker, Mahinda Yogarajah
{"title":"Functional seizures and their mimics: a retrospective service review of cases from a tertiary video telemetry database.","authors":"Peter Dudley, Jan Paul Marquez, Fiona Farrell, Jennifer Benson, Fergus Rugg-Gunn, Meneka K Sidhu, Suzanne O'Sullivan, Matthew Walker, Mahinda Yogarajah","doi":"10.1136/bmjno-2024-000738","DOIUrl":"10.1136/bmjno-2024-000738","url":null,"abstract":"<p><strong>Abstract: </strong></p><p><strong>Objective: </strong>Identify the proportion of patients referred with putative functional seizures (FS) that were subsequently re-diagnosed as epileptic seizures (ES), or an alternative diagnosis, following video telemetry EEG (VTEEG). In addition, describe the characteristics of those seizures.</p><p><strong>Methods: </strong>The VTEEG reports from patients admitted to the Chalfont Centre for Epilepsy between 2019 and 2022 were reviewed. Pre-VTEEG and post-VTEEG diagnoses were compared to identify whether a diagnostic revision was made from suspected FS to ES or another diagnosis. Diagnostic revision cases were then grouped into cohorts with associated features and reviewed to characterise and describe FS mimics.</p><p><strong>Results: </strong>444 VTEEG reports where patients had habitual events were identified. 4.7% of patients were referred with FS and were subsequently diagnosed with ES or another diagnosis. In this group, several cohorts could be identified including frontal lobe epileptic seizures, ES with functional overlay, insular or temporal lobe epileptic seizures associated with autonomic or marked experiential peri-ictal symptoms, and individuals who had both ES and FS but whose ES were revealed on medication withdrawal.</p><p><strong>Conclusion: </strong>In patients referred to a tertiary epilepsy unit, a small minority of cases had seizures diagnosed as functional and reclassified as epileptic or an alternative diagnosis. It is clinically important to be aware of these FS mimics.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11308881/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141908293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"High prevalence of erectile dysfunction in male patients with acute stroke was associated with age but not to modifiable cardiovascular risk factors.","authors":"Christel Baagø Schjørring, Heidi Shil Eddelien, Jawad Haider Butt, Christina Kruuse","doi":"10.1136/bmjno-2024-000795","DOIUrl":"10.1136/bmjno-2024-000795","url":null,"abstract":"<p><strong>Background: </strong>Erectile dysfunction (ED) and stroke share common risk factors, and symptoms of ED often precede the development of clinical cardiovascular disease (CVD). However, little is known about how ED is associated with cardiovascular (CV) risk factors in patients who had a stroke and if concomitant ED is a marker of more severe CVD.</p><p><strong>Aims: </strong>We aimed to identify the prevalence of ED and CV risk factors in patients admitted with a stroke or transient ischaemic attack (TIA). Further, we wanted to test if self-reported ED associated with presence of CV risk factors, and if patients with ED had increased stroke severity compared with patients without ED.</p><p><strong>Methods: </strong>This was a post hoc analysis of data retrieved in a cross-sectional survey from two non-comprehensive stroke units in Denmark. Multiple logistic regression adjusted for covariates was performed to investigate the association between CV risk factors and self-reported ED.</p><p><strong>Results: </strong>We included 287 male patients of which 116 (40.4%) had self-reported ED. Advanced age was significantly associated with self-reported ED (reference ≤60 years: OR 3.93, 95% CI 1.84 to 8.37 for men 71-80 years and OR 4.61, 95% CI 1.92 to 11.08 for men >80 years). Self-reported ED was not significantly associated with CV risk factors or stroke severity.</p><p><strong>Discussion: </strong>Four in 10 men with acute stroke or TIA reported to have ED prior to their stroke, and this was associated with age rather than CV risk factors. Hence, self-reported ED was not restricted to the CVD load, nor was ED a risk marker for increased stroke severity. However, our population was of high age with well-established CVD, and the presence of ED may be a stroke risk marker in younger patients who had a stroke. Based on the prevalence, potential treatment of ED should be addressed in stroke recovery.</p>","PeriodicalId":52754,"journal":{"name":"BMJ Neurology Open","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11298744/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}