Pub Date : 2024-09-19DOI: 10.1186/s12883-024-03860-4
Xiao Qi, Dandan Zou, Miao Zhang, Huaqing Wang
Reversible splenial lesion syndrome (RESLES) is known as a neuro-imaging syndrome with recurrent but reversible lesion of the corpus callosum, characterized by nonspecific but usually mild encephalopathies and specific imaging manifestations.There are few published reports in the field of oncology. A 33-year-old female with right breast cancer and with no particular family history was admitted to hospital with high fever and severe headache, after receiving adjuvant radiotherapy. Blood routine test upon admission suggested neutropenia, considering myelosuppression associated with radiotherapy. There were no definite findings of common pathogenic microorganism, and no imaging indication of certain infectious sites other than a likely reversible corpus callosum syndrome suggested by brain MRI, which was relieved after systemic antibiotic therapy and granulocyte colony-stimulating factor injection. Reversible splenial lesion syndrome is a kind of clinical-imaging syndrome with multiple clinical manifestations and etiologies. This breast cancer patient after postoperative adjuvant radiotherapy develops a complication of RESLES that rings an alarm bell to the oncologists not to easily recognize the corpus callosum lesion as infarction or metastasis. Meanwhile, the potential pathogenic mechanisms need to be explored further.
{"title":"Febrile neutropenia induced by adjuvant radiotherapy for a patient with breast cancer accompanied with reversible splenial lesion syndrome (RESLES, TypeI): a case report","authors":"Xiao Qi, Dandan Zou, Miao Zhang, Huaqing Wang","doi":"10.1186/s12883-024-03860-4","DOIUrl":"https://doi.org/10.1186/s12883-024-03860-4","url":null,"abstract":"Reversible splenial lesion syndrome (RESLES) is known as a neuro-imaging syndrome with recurrent but reversible lesion of the corpus callosum, characterized by nonspecific but usually mild encephalopathies and specific imaging manifestations.There are few published reports in the field of oncology. A 33-year-old female with right breast cancer and with no particular family history was admitted to hospital with high fever and severe headache, after receiving adjuvant radiotherapy. Blood routine test upon admission suggested neutropenia, considering myelosuppression associated with radiotherapy. There were no definite findings of common pathogenic microorganism, and no imaging indication of certain infectious sites other than a likely reversible corpus callosum syndrome suggested by brain MRI, which was relieved after systemic antibiotic therapy and granulocyte colony-stimulating factor injection. Reversible splenial lesion syndrome is a kind of clinical-imaging syndrome with multiple clinical manifestations and etiologies. This breast cancer patient after postoperative adjuvant radiotherapy develops a complication of RESLES that rings an alarm bell to the oncologists not to easily recognize the corpus callosum lesion as infarction or metastasis. Meanwhile, the potential pathogenic mechanisms need to be explored further.","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142254179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-18DOI: 10.1186/s12883-024-03763-4
Jueheng Liu, Jiamei Li, Xuting Jin, Jiajia Ren, Ruohan Li, Jingjing Zhang, Ya Gao, Xiaochuang Wang, Gang Wang
Base excess (BE) is associated with mortality from many diseases. However, the relationship between BE and mortality in patients with ischemic stroke remains uncertain. Our aim is to investigate the relationship between BE values upon admission to the ICU and mortality rates in critically ill stroke patients. The current study enrolled 1,572 patients with ischemic stroke (863 males and 709 females). The associations of BE with intensive care unit (ICU), hospital, 28-day, and 1-year mortalities were assessed using multivariable logistic regression or Cox proportional hazards model. The potential impact of the Sequential Organ Failure Assessment (SOFA) score (< 5 or ≥ 5) on the prognostic value of BE was further evaluated with interaction and subgroup analyses. BE values less than − 3 mmol/L, greater than 3 mmol/L, and within − 3 to 3 mmol/L (normal BE) were observed in 316 (20.1%), 175 (11.1%), and 1,081 (68.8%) patients, respectively. The restricted cubic splines analyses revealed that a U-shaped curve between BE and the mortality risk. Multivariable analysis indicated that patients with low BE (<-3 mmol/L) had higher rates of ICU mortality (odds ratio [OR], 1.829; 95% confidence interval [CI], 1.281–2.612; P = 0.001), hospital mortality (OR, 1.484; 95% CI, 1.077–2.045; P = 0.016), 28-day mortality (hazard ratio [HR], 1.522; 95% CI, 1.200–1.929; P = 0.001), and 1-year mortality (HR, 1.399; 95% CI, 1.148–1.705; P = 0.001) than patients with normal BE. Subgroup analyses showed consistent results pertaining to SOFA scores ≥ 5. In critically ill patients with ischemic stroke, an initial BE of <-3 mmol/L at ICU admission may indicate an increased risk of ICU, hospital, 28-day, and 1-year mortalities.
{"title":"Association between base excess and mortality in critically ill patients with ischemic stroke: a retrospective cohort study","authors":"Jueheng Liu, Jiamei Li, Xuting Jin, Jiajia Ren, Ruohan Li, Jingjing Zhang, Ya Gao, Xiaochuang Wang, Gang Wang","doi":"10.1186/s12883-024-03763-4","DOIUrl":"https://doi.org/10.1186/s12883-024-03763-4","url":null,"abstract":"Base excess (BE) is associated with mortality from many diseases. However, the relationship between BE and mortality in patients with ischemic stroke remains uncertain. Our aim is to investigate the relationship between BE values upon admission to the ICU and mortality rates in critically ill stroke patients. The current study enrolled 1,572 patients with ischemic stroke (863 males and 709 females). The associations of BE with intensive care unit (ICU), hospital, 28-day, and 1-year mortalities were assessed using multivariable logistic regression or Cox proportional hazards model. The potential impact of the Sequential Organ Failure Assessment (SOFA) score (< 5 or ≥ 5) on the prognostic value of BE was further evaluated with interaction and subgroup analyses. BE values less than − 3 mmol/L, greater than 3 mmol/L, and within − 3 to 3 mmol/L (normal BE) were observed in 316 (20.1%), 175 (11.1%), and 1,081 (68.8%) patients, respectively. The restricted cubic splines analyses revealed that a U-shaped curve between BE and the mortality risk. Multivariable analysis indicated that patients with low BE (<-3 mmol/L) had higher rates of ICU mortality (odds ratio [OR], 1.829; 95% confidence interval [CI], 1.281–2.612; P = 0.001), hospital mortality (OR, 1.484; 95% CI, 1.077–2.045; P = 0.016), 28-day mortality (hazard ratio [HR], 1.522; 95% CI, 1.200–1.929; P = 0.001), and 1-year mortality (HR, 1.399; 95% CI, 1.148–1.705; P = 0.001) than patients with normal BE. Subgroup analyses showed consistent results pertaining to SOFA scores ≥ 5. In critically ill patients with ischemic stroke, an initial BE of <-3 mmol/L at ICU admission may indicate an increased risk of ICU, hospital, 28-day, and 1-year mortalities.","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142254196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-17DOI: 10.1186/s12883-024-03706-z
Mohamed Mohamed Hamdy, Nada Nasr, Eman Hamdy
Though an association between cluster headache (CH) and smoking has been postulated, data from the Middle East region is scarce. To study the relationship between smoking and CH clinical characteristics and responsiveness to therapy in Egypt. This was a prospective cohort hospital-based study conducted on patients with episodic and chronic CH in a tertiary headache clinic in Egypt during the period between 2019 and 2023. Patients were consecutively recruited at the time of their presentation and were followed up for two weeks after initiation of prophylactic treatment and steroids (as transitional therapy). Of 172 patients with CH recruited, 144 (83.7%) were smokers. Twenty-eight patients (16.3%) had chronic CH. The mean age was 42.08 ± 10.93 (20–66) years, and 131 (76.2%) were males. Smokers had a significantly higher median number of cluster bouts in the past five years (3.0 (IQR2.0–4.0) versus 2.0 (IQR 1.0–2.0)) and worse HIT-6 scores [51.0 (44.0–59.75) versus 41.0 (38.0–41.75)] than non-smokers (p < 0.001). The number of cluster bouts in the past five years was positively correlated with the smoking index (r = 0.249 (p = 0.006) and the smoking duration (in years) (r = 0.392 (p < 0.001)). HIT-6 scores were significantly correlated with the age at smoking onset (r=-0.190, = 0.023), smoking index (r = 0.519, p < 0.001), smoking duration (r = 0.611, p < 0.001), and number of cigarettes consumed per day (r = 0.392, p < 0.001). Smoking is significantly correlated with the daily frequency of CH attacks, the frequency of CH bouts in the past five years, and the HIT-6 scores among our cohort.
{"title":"Smoking and cluster headache presentation and responsiveness to treatment","authors":"Mohamed Mohamed Hamdy, Nada Nasr, Eman Hamdy","doi":"10.1186/s12883-024-03706-z","DOIUrl":"https://doi.org/10.1186/s12883-024-03706-z","url":null,"abstract":"Though an association between cluster headache (CH) and smoking has been postulated, data from the Middle East region is scarce. To study the relationship between smoking and CH clinical characteristics and responsiveness to therapy in Egypt. This was a prospective cohort hospital-based study conducted on patients with episodic and chronic CH in a tertiary headache clinic in Egypt during the period between 2019 and 2023. Patients were consecutively recruited at the time of their presentation and were followed up for two weeks after initiation of prophylactic treatment and steroids (as transitional therapy). Of 172 patients with CH recruited, 144 (83.7%) were smokers. Twenty-eight patients (16.3%) had chronic CH. The mean age was 42.08 ± 10.93 (20–66) years, and 131 (76.2%) were males. Smokers had a significantly higher median number of cluster bouts in the past five years (3.0 (IQR2.0–4.0) versus 2.0 (IQR 1.0–2.0)) and worse HIT-6 scores [51.0 (44.0–59.75) versus 41.0 (38.0–41.75)] than non-smokers (p < 0.001). The number of cluster bouts in the past five years was positively correlated with the smoking index (r = 0.249 (p = 0.006) and the smoking duration (in years) (r = 0.392 (p < 0.001)). HIT-6 scores were significantly correlated with the age at smoking onset (r=-0.190, = 0.023), smoking index (r = 0.519, p < 0.001), smoking duration (r = 0.611, p < 0.001), and number of cigarettes consumed per day (r = 0.392, p < 0.001). Smoking is significantly correlated with the daily frequency of CH attacks, the frequency of CH bouts in the past five years, and the HIT-6 scores among our cohort.","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142268904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-17DOI: 10.1186/s12883-024-03856-0
Meng Zhao, Xuemin Zhong, Jiaxiu Du, Li Li, Jian Wang, Hongyu Wang
Carotid artery dissection is an important cause of stroke. However, the predictors of ischemic stroke in patients with carotid artery dissection are controversial. The study aimed to analyze the predictors of ischemic stroke in patients with carotid artery dissection through retrospective medical records. Data of discharged patients diagnosed with carotid artery dissection during 2019–2023 were retrospectively collected. Based on the occurrence of ischemic stroke, the patients were divided into the ischemic stroke or non-ischemic stroke groups. Based on the results of univariate analyses, variables with an associated P value < 0.05 were introduced into the multivariable logistic regression analysis. . A total of 165 patients were included in the study, with an average age of 55.00 (48.00, 66.00) years, including 86 patients with internal carotid artery dissection and 79 patients with vertebral artery dissection. Ischemic stroke occurred in 69 patients with carotid artery dissection. Multivariate logistic regression analysis indicated that diabetes (odds ratio [OR]: 3.144, 95% confidence interval [CI]: 1.552–6.508, P<0.002) and high white blood cells count (OR: 1.157, 95% CI: 1.02–1.327,P = 0.028) were related to the incidence of ischemic stroke in patients with carotid artery dissection. Ischemic stroke caused by carotid artery dissection causes severe damage to the nervous system. This study found that diabetes and high white blood cells count were associated with the incidence of ischemic stroke in patients with carotid artery dissection. Therefore, monitoring and controlling blood glucose levels and infections is essential in patients with carotid artery dissection to reduce the incidence of stroke.
{"title":"Association of diabetes and white blood cell count with stroke in patients with carotid artery dissection","authors":"Meng Zhao, Xuemin Zhong, Jiaxiu Du, Li Li, Jian Wang, Hongyu Wang","doi":"10.1186/s12883-024-03856-0","DOIUrl":"https://doi.org/10.1186/s12883-024-03856-0","url":null,"abstract":"Carotid artery dissection is an important cause of stroke. However, the predictors of ischemic stroke in patients with carotid artery dissection are controversial. The study aimed to analyze the predictors of ischemic stroke in patients with carotid artery dissection through retrospective medical records. Data of discharged patients diagnosed with carotid artery dissection during 2019–2023 were retrospectively collected. Based on the occurrence of ischemic stroke, the patients were divided into the ischemic stroke or non-ischemic stroke groups. Based on the results of univariate analyses, variables with an associated P value < 0.05 were introduced into the multivariable logistic regression analysis. . A total of 165 patients were included in the study, with an average age of 55.00 (48.00, 66.00) years, including 86 patients with internal carotid artery dissection and 79 patients with vertebral artery dissection. Ischemic stroke occurred in 69 patients with carotid artery dissection. Multivariate logistic regression analysis indicated that diabetes (odds ratio [OR]: 3.144, 95% confidence interval [CI]: 1.552–6.508, P<0.002) and high white blood cells count (OR: 1.157, 95% CI: 1.02–1.327,P = 0.028) were related to the incidence of ischemic stroke in patients with carotid artery dissection. Ischemic stroke caused by carotid artery dissection causes severe damage to the nervous system. This study found that diabetes and high white blood cells count were associated with the incidence of ischemic stroke in patients with carotid artery dissection. Therefore, monitoring and controlling blood glucose levels and infections is essential in patients with carotid artery dissection to reduce the incidence of stroke.","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142254198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-17DOI: 10.1186/s12883-024-03846-2
Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Pauline Planté-Bordeneuve, Eugénie Mutez, Vincent Huin
Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases. The diagnosis of this disease requires genetic testing that may also include the search for CAT interruption of the CAG repeat tract. One 23-years-old patient suffers from a severe ataxia, with early-onset and rapid progression of the disease. His father might have been affected, but no molecular confirmation has been performed. The genetic results were negative for the Friedreich’s ataxia, spinocerebellar ataxia type 2, 3, 6, 7 and 17. The numbers of CAG repeats in the ATXN1 gene was assessed by fluorescent PCR, tripled-primed PCR and enzymatic digestion for the search of sequence interruption in the CAG repeats. The patient carried one pathogenic allele of 61 CAG and one intermediate allele of 37 CAG in the ATXN1 gene. Both alleles were uninterrupted. We report a rare case of spinocerebellar ataxia type 1 with an intermediate allele and a large SCA1 expansion. The determination of the absence of CAT interruption brought crucial information concerning this molecular diagnosis, the prediction of the disease and had practical consequences for genetic counseling.
{"title":"Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report","authors":"Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Pauline Planté-Bordeneuve, Eugénie Mutez, Vincent Huin","doi":"10.1186/s12883-024-03846-2","DOIUrl":"https://doi.org/10.1186/s12883-024-03846-2","url":null,"abstract":"Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases. The diagnosis of this disease requires genetic testing that may also include the search for CAT interruption of the CAG repeat tract. One 23-years-old patient suffers from a severe ataxia, with early-onset and rapid progression of the disease. His father might have been affected, but no molecular confirmation has been performed. The genetic results were negative for the Friedreich’s ataxia, spinocerebellar ataxia type 2, 3, 6, 7 and 17. The numbers of CAG repeats in the ATXN1 gene was assessed by fluorescent PCR, tripled-primed PCR and enzymatic digestion for the search of sequence interruption in the CAG repeats. The patient carried one pathogenic allele of 61 CAG and one intermediate allele of 37 CAG in the ATXN1 gene. Both alleles were uninterrupted. We report a rare case of spinocerebellar ataxia type 1 with an intermediate allele and a large SCA1 expansion. The determination of the absence of CAT interruption brought crucial information concerning this molecular diagnosis, the prediction of the disease and had practical consequences for genetic counseling.","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142268943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-16DOI: 10.1186/s12883-024-03843-5
Björn Meyer, Linda T. Betz, Gitta A. Jacob, Nicole Krause, Karin Riemann-Lorenz, Stefan M. Gold, Jana Pöttgen, Christoph Heesen
Multiple Sclerosis (MS) is a chronic inflammatory neurodegenerative disease with diverse symptomatology, significantly impacting patients’ quality of life (QoL). While pharmacological therapies focus primarily on reducing inflammation and relapse rates, non-pharmacological interventions, including digital health applications, have shown promise in improving QoL among persons with MS (PwMS). Pilot studies had shown the feasibility and acceptability of levidex, a digital health application based on cognitive behavioral therapy (CBT) principles, a broad set of behavior change techniques, and relevant lifestyle-change advice. This randomized controlled trial aimed to examine the effects of levidex on MS-related QoL over 6 months. Participants who were diagnosed with MS for at least one year were recruited via the internet in Germany, using a secure survey software platform, and were randomly assigned to the intervention group (IG), in which they received standard care + levidex, or an active control group (CG), in which they received standard care and were offered web-adapted material on the topic of lifestyle change from the German Multiple Sclerosis Society (DMSG). The primary outcome was MS-related QoL after 6 months, measured by the Hamburg Quality of Life Questionnaire in MS (HAQUAMS); secondary outcomes included QoL subscales, sick days, and health behavior, among others. Analyses of Covariance (ANCOVA) were used to examine intervention effects at 6 months. Participants were recruited between November 2020 and February 2022. A total of 421 adult participants (mean age: 47.5, 78.1% women) were included and randomized (IG, n = 195, CG, n = 226). After 6 months, the IG exhibited significantly higher MS-related QoL, compared to the CG (total score HAQUAMS, adjusted group mean difference = -0.14, 95% CI: [-0.22, -0.06], p = 0.001; Cohen’s d = 0.23), with significant effects also observed on the cognitive and mood subscales. At 6 months, IG participants also reported significantly fewer sick days (median = 2 days in IG vs. 6 days in CG; W = 3939, p = 0.012) and significantly higher levels of daily activities, as measured by the Frenchay Activity Index, adjusted group mean difference = 1.37, 95% CI = [0.33, 2.40], p = 0.010; Cohen’s d = 0.16. Safety analyses showed no adverse events and good satisfaction. Compared to the control group, levidex facilitated clinically relevant improvements in MS-related QoL, reduced sick days, and enhanced activity in PwMS over 6 months. These findings suggest that levidex can serve as an effective non-pharmacological adjunctive treatment element to standard care and could help improve QoL among PwMS. Registered on 22.09.2020 at the German Clinical Trials Register DRKS00023023.
{"title":"Effectiveness of a digital lifestyle management intervention (levidex) to improve quality of life in people with multiple sclerosis: results of a randomized controlled trial","authors":"Björn Meyer, Linda T. Betz, Gitta A. Jacob, Nicole Krause, Karin Riemann-Lorenz, Stefan M. Gold, Jana Pöttgen, Christoph Heesen","doi":"10.1186/s12883-024-03843-5","DOIUrl":"https://doi.org/10.1186/s12883-024-03843-5","url":null,"abstract":"Multiple Sclerosis (MS) is a chronic inflammatory neurodegenerative disease with diverse symptomatology, significantly impacting patients’ quality of life (QoL). While pharmacological therapies focus primarily on reducing inflammation and relapse rates, non-pharmacological interventions, including digital health applications, have shown promise in improving QoL among persons with MS (PwMS). Pilot studies had shown the feasibility and acceptability of levidex, a digital health application based on cognitive behavioral therapy (CBT) principles, a broad set of behavior change techniques, and relevant lifestyle-change advice. This randomized controlled trial aimed to examine the effects of levidex on MS-related QoL over 6 months. Participants who were diagnosed with MS for at least one year were recruited via the internet in Germany, using a secure survey software platform, and were randomly assigned to the intervention group (IG), in which they received standard care + levidex, or an active control group (CG), in which they received standard care and were offered web-adapted material on the topic of lifestyle change from the German Multiple Sclerosis Society (DMSG). The primary outcome was MS-related QoL after 6 months, measured by the Hamburg Quality of Life Questionnaire in MS (HAQUAMS); secondary outcomes included QoL subscales, sick days, and health behavior, among others. Analyses of Covariance (ANCOVA) were used to examine intervention effects at 6 months. Participants were recruited between November 2020 and February 2022. A total of 421 adult participants (mean age: 47.5, 78.1% women) were included and randomized (IG, n = 195, CG, n = 226). After 6 months, the IG exhibited significantly higher MS-related QoL, compared to the CG (total score HAQUAMS, adjusted group mean difference = -0.14, 95% CI: [-0.22, -0.06], p = 0.001; Cohen’s d = 0.23), with significant effects also observed on the cognitive and mood subscales. At 6 months, IG participants also reported significantly fewer sick days (median = 2 days in IG vs. 6 days in CG; W = 3939, p = 0.012) and significantly higher levels of daily activities, as measured by the Frenchay Activity Index, adjusted group mean difference = 1.37, 95% CI = [0.33, 2.40], p = 0.010; Cohen’s d = 0.16. Safety analyses showed no adverse events and good satisfaction. Compared to the control group, levidex facilitated clinically relevant improvements in MS-related QoL, reduced sick days, and enhanced activity in PwMS over 6 months. These findings suggest that levidex can serve as an effective non-pharmacological adjunctive treatment element to standard care and could help improve QoL among PwMS. Registered on 22.09.2020 at the German Clinical Trials Register DRKS00023023.","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142254197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-14DOI: 10.1186/s12883-024-03853-3
Bradley Powell, Roger Mills, Alan Tennant, Carolyn A. Young, Dawn Langdon
Stigma is increasingly recognised as contributing to disability in MS. This systematic review aimed to answer the following question: To what extent is stigma associated with psychological and physical health outcomes in MS? The inclusion criteria were: scientific publication of original quantitative research in adults with MS and/or Clinically Isolated Syndrome; outcome measures including a measurement of stigma and psychological and/or physical health; peer reviewed articles in the English language. Pubmed, PsycINFO and Science Direct were searched in November 2023. The Joanna Briggs Institute Critical Appraisal Tool was used to assess the methodological quality and risk of bias in all of the identified studies. The following data was extracted: (1) author and publication year, (2) country, (3) design, (4) sample size and demographics, (5) stigma measure, (6) psychological and/or physical health outcomes, 8) key findings. 18 Studies were identified, reporting in total 22,021 adult participants with multiple sclerosis, with individual sample sizes ranging from 33 to 6,670. The review consistently identified stigma to be significantly associated with adverse psychological and physical health outcomes in all 18 identified studies. Over half of all identified studies investigated depression and stigma and over half investigated quality of life and stigma, and a significant association was demonstrated for both of these variables with stigma in all of these studies. Limitations are that most studies were Western with primarily white participants. Only variables studied could be reported and therefore only a selective perspective of stigma in MS could be explored. A meta-analysis was not feasible, due to the variety of stigma definitions and measures employed. A model of stigma in MS is presented and possible interventions to manage stigma in MS are discussed. A need for international action to develop a consensus measure of MS stigma and determine the trajectory and causal dynamics of MS stigma is highlighted.
{"title":"Stigma and health outcomes in multiple sclerosis: a systematic review","authors":"Bradley Powell, Roger Mills, Alan Tennant, Carolyn A. Young, Dawn Langdon","doi":"10.1186/s12883-024-03853-3","DOIUrl":"https://doi.org/10.1186/s12883-024-03853-3","url":null,"abstract":"Stigma is increasingly recognised as contributing to disability in MS. This systematic review aimed to answer the following question: To what extent is stigma associated with psychological and physical health outcomes in MS? The inclusion criteria were: scientific publication of original quantitative research in adults with MS and/or Clinically Isolated Syndrome; outcome measures including a measurement of stigma and psychological and/or physical health; peer reviewed articles in the English language. Pubmed, PsycINFO and Science Direct were searched in November 2023. The Joanna Briggs Institute Critical Appraisal Tool was used to assess the methodological quality and risk of bias in all of the identified studies. The following data was extracted: (1) author and publication year, (2) country, (3) design, (4) sample size and demographics, (5) stigma measure, (6) psychological and/or physical health outcomes, 8) key findings. 18 Studies were identified, reporting in total 22,021 adult participants with multiple sclerosis, with individual sample sizes ranging from 33 to 6,670. The review consistently identified stigma to be significantly associated with adverse psychological and physical health outcomes in all 18 identified studies. Over half of all identified studies investigated depression and stigma and over half investigated quality of life and stigma, and a significant association was demonstrated for both of these variables with stigma in all of these studies. Limitations are that most studies were Western with primarily white participants. Only variables studied could be reported and therefore only a selective perspective of stigma in MS could be explored. A meta-analysis was not feasible, due to the variety of stigma definitions and measures employed. A model of stigma in MS is presented and possible interventions to manage stigma in MS are discussed. A need for international action to develop a consensus measure of MS stigma and determine the trajectory and causal dynamics of MS stigma is highlighted.","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142254199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-14DOI: 10.1186/s12883-024-03829-3
Ye Du, Yanxing Zhang, Yangbo Xing, Xiatian Liu, Huayong Jin, Yuxin Zhang, Chengyi Li, Buyun Xu
The patent foramen ovale (PFO) and interatrial block (IAB) are associated with cryptogenic stroke (CS). However, the role of the interaction between PFO and IAB in CS remains unclear. This case–control study enrolled 256 patients with CS and 156 individuals without a history of stroke or transient ischemic attack. IAB was defined as P wave duration > 120 ms. PFO was evaluated by contrast transesophageal echocardiography, and classified as no-PFO, low-risk PFO and high-risk PFO. Multiplicative and additive interaction analysis were used to assess the interaction between PFO and IAB in CS. Multiplicative interaction analysis unveiled a significant interaction between IAB and low-risk PFO in CS (OR for interaction = 3.653, 95% CI, 1.115–12.506; P = 0.037). Additive interaction analysis indicated that 68.4% (95% CI, 0.333–1.050; P < 0.001) of the increased risk of CS related to low-risk PFO was attributed to the interaction with IAB. The results were robust in multivariate analysis. However, but no significant multiplicative or additive interaction was observed between IAB and high-risk PFO. When stratified by IAB, high-risk PFO was associated with CS in both patients with IAB (OR, 4.186; 95% CI, 1.617–10.839; P = 0.003) and without IAB (OR, 3.476; 95% CI, 1.790–6.750; P < 0.001). However, low-risk PFO was only associated with CS in patients with IAB (OR, 2.684; 95% CI, 1.007–7.149; P = 0.048) but not in those without IAB (OR, 0.753; 95% CI, 0.343–1.651; P = 0.479). The interaction between IAB and PFO might play an important role in CS, particularly in cases with low-risk PFO.
{"title":"Role of interatrial block in modulating cryptogenic stroke risk in patients with patent foramen ovale: a retrospective study","authors":"Ye Du, Yanxing Zhang, Yangbo Xing, Xiatian Liu, Huayong Jin, Yuxin Zhang, Chengyi Li, Buyun Xu","doi":"10.1186/s12883-024-03829-3","DOIUrl":"https://doi.org/10.1186/s12883-024-03829-3","url":null,"abstract":"The patent foramen ovale (PFO) and interatrial block (IAB) are associated with cryptogenic stroke (CS). However, the role of the interaction between PFO and IAB in CS remains unclear. This case–control study enrolled 256 patients with CS and 156 individuals without a history of stroke or transient ischemic attack. IAB was defined as P wave duration > 120 ms. PFO was evaluated by contrast transesophageal echocardiography, and classified as no-PFO, low-risk PFO and high-risk PFO. Multiplicative and additive interaction analysis were used to assess the interaction between PFO and IAB in CS. Multiplicative interaction analysis unveiled a significant interaction between IAB and low-risk PFO in CS (OR for interaction = 3.653, 95% CI, 1.115–12.506; P = 0.037). Additive interaction analysis indicated that 68.4% (95% CI, 0.333–1.050; P < 0.001) of the increased risk of CS related to low-risk PFO was attributed to the interaction with IAB. The results were robust in multivariate analysis. However, but no significant multiplicative or additive interaction was observed between IAB and high-risk PFO. When stratified by IAB, high-risk PFO was associated with CS in both patients with IAB (OR, 4.186; 95% CI, 1.617–10.839; P = 0.003) and without IAB (OR, 3.476; 95% CI, 1.790–6.750; P < 0.001). However, low-risk PFO was only associated with CS in patients with IAB (OR, 2.684; 95% CI, 1.007–7.149; P = 0.048) but not in those without IAB (OR, 0.753; 95% CI, 0.343–1.651; P = 0.479). The interaction between IAB and PFO might play an important role in CS, particularly in cases with low-risk PFO.","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142254200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-13DOI: 10.1186/s12883-024-03787-w
Renzhi Deng, Jianying Qin, Lei Wang, Haibin Li, Ning Wen, Ke Qin, Jianhui Dong, Jihua Wu, Dandan Zhu, Xuyong Sun
Glioma is the most common brain tumor. IDH mutations occur frequently in glioma, indicating a more favorable prognosis. We aimed to explore energy metabolism-related genes in glioma to promote the research and treatment. Datasets were obtained from TCGA and GEO databases. Candidate genes were screened by differential gene expression analysis, then functional enrichment analysis was conducted on the candidate genes. PPI was also carried out to help determine the target gene. GSEA and DO analysis were conducted in the different expression level groups of the target gene. Survival analysis and immune cell infiltrating analysis were performed as well. We screened 34 candidate genes and selected GLUD1 as the target gene. All candidate genes were significantly enriched in 10 KEGG pathways and 330 GO terms. GLUD1 expression was higher in IDH-mutant samples than IDH-wildtype samples, and higher in normal samples than tumor samples. Low GLUD1 expression was related to poor prognosis according to survival analysis. Most types of immune cells were negatively related to GLUD1 expression, but monocytes and activated mast cells exhibited significantly positive correlation with GLUD1 expression. GLUD1 expression was significantly related to 119 drugs and 6 immune checkpoint genes. GLUD1 was able to serve as an independent prognostic indicator of IDH-mutant glioma. In this study, we identified an energy metabolism-related gene GLUD1 potentially contributing to favorable clinical outcomes of IDH-mutant glioma. In glioma, GLUD1 related clinical outcomes and immune landscape were clearer, and more valuable information was provided for immunotherapy.
胶质瘤是最常见的脑肿瘤。IDH突变在胶质瘤中频繁出现，预示着胶质瘤的预后较好。我们旨在探索胶质瘤中的能量代谢相关基因，以促进研究和治疗。数据集来自 TCGA 和 GEO 数据库。通过差异基因表达分析筛选候选基因，然后对候选基因进行功能富集分析。还进行了 PPI 分析，以帮助确定靶基因。对目标基因的不同表达水平组进行了GSEA和DO分析。同时还进行了生存分析和免疫细胞浸润分析。我们筛选了 34 个候选基因，并选择 GLUD1 作为靶基因。所有候选基因都在 10 个 KEGG 通路和 330 个 GO 术语中明显富集。GLUD1在IDH突变样本中的表达高于IDH野生型样本，在正常样本中的表达高于肿瘤样本。根据生存分析，GLUD1的低表达与预后不良有关。大多数类型的免疫细胞与GLUD1表达呈负相关，但单核细胞和活化肥大细胞与GLUD1表达呈显著正相关。GLUD1的表达与119种药物和6个免疫检查点基因明显相关。GLUD1可作为IDH突变胶质瘤的独立预后指标。在这项研究中，我们发现了一个与能量代谢相关的基因GLUD1，它可能有助于IDH突变型胶质瘤的良好临床预后。在胶质瘤中，与GLUD1相关的临床预后和免疫格局更加清晰，为免疫疗法提供了更多有价值的信息。
{"title":"Energy metabolism-related GLUD1 contributes to favorable clinical outcomes of IDH-mutant glioma","authors":"Renzhi Deng, Jianying Qin, Lei Wang, Haibin Li, Ning Wen, Ke Qin, Jianhui Dong, Jihua Wu, Dandan Zhu, Xuyong Sun","doi":"10.1186/s12883-024-03787-w","DOIUrl":"https://doi.org/10.1186/s12883-024-03787-w","url":null,"abstract":"Glioma is the most common brain tumor. IDH mutations occur frequently in glioma, indicating a more favorable prognosis. We aimed to explore energy metabolism-related genes in glioma to promote the research and treatment. Datasets were obtained from TCGA and GEO databases. Candidate genes were screened by differential gene expression analysis, then functional enrichment analysis was conducted on the candidate genes. PPI was also carried out to help determine the target gene. GSEA and DO analysis were conducted in the different expression level groups of the target gene. Survival analysis and immune cell infiltrating analysis were performed as well. We screened 34 candidate genes and selected GLUD1 as the target gene. All candidate genes were significantly enriched in 10 KEGG pathways and 330 GO terms. GLUD1 expression was higher in IDH-mutant samples than IDH-wildtype samples, and higher in normal samples than tumor samples. Low GLUD1 expression was related to poor prognosis according to survival analysis. Most types of immune cells were negatively related to GLUD1 expression, but monocytes and activated mast cells exhibited significantly positive correlation with GLUD1 expression. GLUD1 expression was significantly related to 119 drugs and 6 immune checkpoint genes. GLUD1 was able to serve as an independent prognostic indicator of IDH-mutant glioma. In this study, we identified an energy metabolism-related gene GLUD1 potentially contributing to favorable clinical outcomes of IDH-mutant glioma. In glioma, GLUD1 related clinical outcomes and immune landscape were clearer, and more valuable information was provided for immunotherapy.","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142217078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-13DOI: 10.1186/s12883-024-03850-6
Sameen Haque, Karen Crawley, Deborah Schofield, Rupendra Shrestha, Carolyn M. Sue
Cascade testing can offer improved surveillance and timely introduction of clinical management for the at-risk biological relatives. Data on cascade testing and costs in mitochondrial diseases are lacking. To address this gap, we performed a cross-sectional retrospective study to provide a framework for cascade testing in mitochondrial diseases, to estimate the eligibility versus real-time uptake of cascade testing and to evaluate the cost of the genetic diagnosis of index cases and the cost of predictive cascade testing. Data was collected through retrospective chart review. The variant inheritance pattern guided the identification of eligible first-degree relatives: (i) Males with mitochondrial DNA (mtDNA) single nucleotide variants (SNVs) – siblings and mothers. (ii) Females with mtDNA SNVs – siblings, mothers and offspring. (iii) Autosomal Dominant (AD) nuclear DNA (nDNA) variants – siblings, offspring and both parents. (iv) Autosomal Recessive (AR) nDNA variants – siblings. We recruited 99 participants from the Adult Mitochondrial Disease Clinic in Sydney. The uptake of cascade testing was 55.2% in the mtDNA group, 55.8% in the AD nDNA group and 0% in AR nDNA group. Of the relatives in mtDNA group who underwent cascade testing, 65.4% were symptomatic, 20.5% were oligosymptomatic and 14.1% were asymptomatic. The mean cost of cascade testing for eligible first-degree relatives (mtDNA group: $694.7; AD nDNA group: $899.1) was lower than the corresponding index case (mtDNA group: $4578.4; AD nDNA group: $5715.1) (p < 0.001). The demand for cascade testing in mitochondrial diseases varies according to the genotype and inheritance pattern. The real-time uptake of cascade testing can be influenced by multiple factors. Early diagnosis of at-risk biological relatives of index cases through cascade testing, confirms the diagnosis in those who are symptomatic and facilitates implementation of surveillance strategies and clinical care at an early stage of the disease.
{"title":"Cascade testing in mitochondrial diseases: a cross-sectional retrospective study","authors":"Sameen Haque, Karen Crawley, Deborah Schofield, Rupendra Shrestha, Carolyn M. Sue","doi":"10.1186/s12883-024-03850-6","DOIUrl":"https://doi.org/10.1186/s12883-024-03850-6","url":null,"abstract":"Cascade testing can offer improved surveillance and timely introduction of clinical management for the at-risk biological relatives. Data on cascade testing and costs in mitochondrial diseases are lacking. To address this gap, we performed a cross-sectional retrospective study to provide a framework for cascade testing in mitochondrial diseases, to estimate the eligibility versus real-time uptake of cascade testing and to evaluate the cost of the genetic diagnosis of index cases and the cost of predictive cascade testing. Data was collected through retrospective chart review. The variant inheritance pattern guided the identification of eligible first-degree relatives: (i) Males with mitochondrial DNA (mtDNA) single nucleotide variants (SNVs) – siblings and mothers. (ii) Females with mtDNA SNVs – siblings, mothers and offspring. (iii) Autosomal Dominant (AD) nuclear DNA (nDNA) variants – siblings, offspring and both parents. (iv) Autosomal Recessive (AR) nDNA variants – siblings. We recruited 99 participants from the Adult Mitochondrial Disease Clinic in Sydney. The uptake of cascade testing was 55.2% in the mtDNA group, 55.8% in the AD nDNA group and 0% in AR nDNA group. Of the relatives in mtDNA group who underwent cascade testing, 65.4% were symptomatic, 20.5% were oligosymptomatic and 14.1% were asymptomatic. The mean cost of cascade testing for eligible first-degree relatives (mtDNA group: $694.7; AD nDNA group: $899.1) was lower than the corresponding index case (mtDNA group: $4578.4; AD nDNA group: $5715.1) (p < 0.001). The demand for cascade testing in mitochondrial diseases varies according to the genotype and inheritance pattern. The real-time uptake of cascade testing can be influenced by multiple factors. Early diagnosis of at-risk biological relatives of index cases through cascade testing, confirms the diagnosis in those who are symptomatic and facilitates implementation of surveillance strategies and clinical care at an early stage of the disease.","PeriodicalId":9170,"journal":{"name":"BMC Neurology","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142216927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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