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Published By Springer (Biomed Central Ltd.)

1471-2377, 1471-2377
Updated Friday, 03 December 2021

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Abril Oliva Ramirez ◽  
Alexander Keenan ◽  
Olivia Kalau ◽  
Evelyn Worthington ◽  
Lucas Cohen ◽  
...  

Abstract Background Multiple sclerosis (MS) is a chronic, demyelinating disease of the central nervous system that results in progressive and irreversible disability. Fatigue is one of the most common MS-related symptoms and is characterized by a persistent lack of energy that impairs daily functioning. The burden of MS-related fatigue is complex and multidimensional, and to our knowledge, no systematic literature review has been conducted on this subject. The purpose of this study was to conduct a systematic literature review on the epidemiology and burden of fatigue in people with multiple sclerosis (pwMS). Methods Systematic searches were conducted in MEDLINE, Embase, and Evidence-Based Medicine Reviews to identify relevant studies of fatigue in pwMS. English-language records published from 2010 to January 2020 that met predefined eligibility criteria were included. We initially selected studies that reported quality of life (QoL) and economic outcomes according to categories of fatigue (e.g., fatigued vs non-fatigued). Studies assessing associations between economic outcomes and fatigue as a continuous measure were later included to supplement the available data. Results The search identified 8147 unique records, 54 of which met the inclusion criteria. Of these, 39 reported epidemiological outcomes, 11 reported QoL, and 9 reported economic outcomes. The supplementary screen for economic studies with fatigue as a continuous measure included an additional 20 records. Fatigue prevalence in pwMS ranged from 36.5 to 78.0%. MS-related fatigue was consistently associated with significantly lower QoL. Results on the economic impact of fatigue were heterogeneous, but most studies reported a significant association between presence or severity of fatigue and employment status, capacity to work, and sick leave. There was a gap in evidence regarding the direct costs of MS-related fatigue and the burden experienced by caregivers of pwMS. Conclusion Fatigue is a prevalent symptom in pwMS and is associated with considerable QoL and economic burden. There are gaps in the evidence related to the direct costs of MS-related fatigue and the burden of fatigue on caregivers. Addressing fatigue over the clinical course of the disease may improve health and economic outcomes for patients with MS.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ann-Marie Chapman ◽  
Marieke Schurer ◽  
Laure Weijers ◽  
Amer Omar ◽  
Hiba Lee ◽  
...  

Abstract Background Non-dystrophic myotonias (NDMs) comprise muscle chloride and sodium channelopathies due to genetic defects of the CLCN1- and SCN4A-channels. No licensed antimyotonic treatment has been available until approval of mexiletine (NaMuscla®) for adult patients by the EMA in December 2018. This Delphi panel aimed to understand how outcomes of the pivotal phase III Mexiletine study (MYOMEX) translate to real world practice and investigate health resource use, quality of life and the natural history of NDM to support economic modelling and facilitate patient access. Methods Nine clinical experts in treating NDM took part in a two-round Delphi panel. Their knowledge of NDM and previous use of mexiletine as an off-label treatment prior to NaMuscla’s approval ensured they could provide both qualitative context and quantitative estimates to support economic modelling comparing mexiletine (NaMuscla) to best supportive care. Consensus in four key areas was sought: healthcare resource utilization (HRU), treatment with mexiletine (NaMuscla), patient quality of life (QoL), and the natural history of disease. Concept questions were also asked, considering perceptions on the feasibility of mapping the validated Individualized Neuromuscular Quality of Life (INQoL) instrument to the generic EQ-5D™, and the potential impact on caregiver QoL. Results Consensus was achieved for key questions including the average long-term dosage of mexiletine (NaMuscla) in practice, the criteria for eligibility of myotonia treatment, the clinical importance of QoL outcomes in MYOMEX, the higher proportion of patients with increased QoL, and the reduction in the need for mental health resources for patients receiving mexiletine (NaMuscla). While consensus was not achieved for other questions, the results demonstrated that most experts felt mexiletine (NaMuscla) reduced the need for HRU and was expected to improve QoL. The QoL mapping exercise suggested that it is feasible to map domains of INQoL to EQ-5D. Points of interest for future research were identified, including that mexiletine (NaMuscla) may slow the annual decrease in QoL of patients over their lifetime, and a significant negative impact on QoL for some caregivers. Conclusions This project successfully provided data from an informed group of clinical experts, complementing the currently available clinical trial data for mexiletine (NaMuscla) to support patient access decisions.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jhanvi Shah ◽  
Harsh Patel ◽  
Deepika Jain ◽  
Frenny Sheth ◽  
Harsh Sheth

Abstract Background Rett syndrome (RTT) is characterized by a normal perinatal period with a normal head size at birth followed by normal development for the first 6 months of life followed by gradual deceleration of head growth, loss of acquired purposeful hand skills, severe expressive and receptive language impairment, severe intellectual disability and gait and truncal apraxia/ ataxia. It is caused due to mutations in the MECP2 gene and follows an X-linked dominant mode of inheritance. It was observed exclusively in females and was believed to be lethal in males. In contrast to this belief, several males were identified with RTT upon genetic analysis, however, most males expired by the age of 2 years due to neonatal encephalopathy. The ones that survived beyond the age of 2 years, were attributed to the presence of an extra X chromosome (co-occurrence of Klinefelter and RTT) or the ones having mosaic cell lines. Only 11 males with somatic mosaicism are known till date. Case presentation This case reports an ultra-rare case of a male affected with RTT surviving beyond the age of 2 years due to post-zygotic de novo somatic mosaicism. He was identified with a known pathogenic variant c.538C > T (p.R180*), which to the best of our knowledge is exclusively seen in females and has never been reported in a male before. Conclusion The present case is the first report of a mosaic male affected with RTT from India. The present report also carried out genotype-phenotype correlations across surviving mosaic males with RTT. We also postulate the effect of variant type, position along the gene and the variant allele fraction in different tissue types to be correlated with disease severity.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhi-bing Hu ◽  
Ze-xiong Lu ◽  
Feng Zhu ◽  
Cao-qiang Jiang ◽  
Wei-sen Zhang ◽  
...  

Abstract Background Chronic inflammatory diseases are linked to an increased risk of stroke events. The white blood cell (WBC) count is a common marker of the inflammatory response. However, it is unclear whether the WBC count, its subpopulations and their dynamic changes are related to the risk of fatal stroke in relatively healthy elderly population. Methods In total, 27,811 participants without a stroke history at baseline were included and followed up for a mean of 11.5 (standard deviation = 2.3) years. After review of available records, 503 stroke deaths (ischaemic 227, haemorrhagic 172 and unclassified 104) were recorded. Cox proportional hazards regression was used to assess the associations between the WBC count, its subpopulations and their dynamic changes (two-phase examination from baseline to the 1st follow-up) and the risk of fatal all stroke, fatal ischaemic stroke and fatal haemorrhagic stroke. Results (i) Regarding the WBC count in relation to the risk of fatal stroke, restricted cubic splines showed an atypically U-curved association between the WBC count and the risk of fatal all stroke occurrence. Compared with those in the lowest WBC count quartile (< 5.3*10^9/L), the participants with the highest WBC count (> 7.2*10^9/L) had a 53 and 67% increased risk for fatal all stroke (adjusted hazard ratio [aHR] = 1.53, 95% confidence interval (CI) 1.16–2.02, P = 0.003) and fatal haemorrhagic stroke (aHR = 1.67, 95% CI 1.10–2.67, P = 0.03), respectively; compared with those in the lowest quartile (< 3.0*10^9/L), the participants with the highest NEUT count (> 4.5*10^9/L) had a 45 and 65% increased risk for fatal all stroke (aHR = 1.45, 95% CI 1.10–1.89, P = 0.008) and fatal ischaemic stroke (aHR = 1.65, 95%CI 1.10–2.47 P = 0.02), respectively. With the additional adjustment for C-reactive protein, the same results as those for all stroke and ischaemic stroke, but not haemorrhagic stroke, were obtained for the WBC count (4 ~ 10*10^9/L) and the NEUT count (the NEUT counts in the top 1% and bottom 1% at baseline were excluded). (ii) Regarding dynamic changes in the WBC count in relation to the risk of fatal stroke, compared with the stable group (− 25% ~ 25%, dynamic changes from two phases of examination (baseline, from September 1st, 2003 to February 28th, 2008; 1st follow-up, from March 31st 2008 to December 31st 2012)), the groups with a 25% increase in the WBC count and NEUT count respectively had a 60% (aHR = 1.60, 95% CI 1.07–2.40, P = 0.02) and 45% (aHR = 1.45, 95% CI1.02–2.05, P = 0.04) increased risk of fatal all stroke occurrence. Conclusions The WBC count, especially the NEUT count, was associated with an increased risk of fatal all stroke occurrence. Longitudinal changes in the WBC count and NEUT count increase in excess of 25% were also associated with an increased risk of fatal all stroke occurrence in the elderly population.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yeqing Xiao ◽  
Jie Yang ◽  
Jian Xia ◽  
Yunhai Liu ◽  
Qing Huang ◽  
...  

Abstract Introduction Spinal subarachnoid haemorrhage is extremely rare in cases of subarachnoid haemorrhage and possesses servere characteristics. Additionally, spinal rheumatoid vasculitis is rare for spinal subarachnoid haemorrhage. The pathogenesis is unknown. Case presentation A 52-year-old woman with a 10-year history of seropositive rheumatoid arthritis was managed with leflunomide and celecoxib, and stable low disease activity was achieved. The patient had also been diagnosed with spinal subarachnoid haemorrhage secondary to isolated spinal rheumatoid vasculitis and obtained good therapeutic effects. Conclusion This is the first case to describe spinal subarachnoid haemorrhage secondary to isolated spinal vasculitis in a patient with rheumatoid arthritis, which provides more proof of anomalous neovascularization in the central nervous system in rheumatoid arthritis.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Mahsa Mahmoudinezhad ◽  
Mohammad Khalili ◽  
Nasim Rezaeemanesh ◽  
Mehdi Farhoudi ◽  
Sharareh Eskandarieh

Abstract Background Malnutrition as a result of insufficient intake or uptake of nutrition leads to increasing rate of chronic diseases such as stroke. Stroke is one of the most common causes of death in western countries and its increasing trend has attracted lots of attention. In this regard, it seems logical to focus on modifiable risk factors such as nutrition, in order to reduce the resulting complications. Accordingly, this study aimed at evaluating nutrition status of stroke patients to estimate its relationship with clinical outcomes of stroke. Methods In the present cross-sectional study, 349 patients were recruited. Nutrition assessment was performed using Patient-Generated Subjective Global Assessment (PG-SGA). In addition, National Institutes of Health Stroke Scale (NIHSS), modified Rankin Scale (mRS), and biochemical tests were performed. Results Our findings elucidated a significant positive correlation of mRS with PG-SGA and consciousness score, as well as a negative correlation with BMI, calf circumference, mid-arm circumference, and triceps skinfold at admission time (P ≤ 0.002). Moreover, a direct correlation was found between mRS and PG-SGA and consciousness score at discharge time (P ≤ 0.001). In contrast, an inverse correlation was established between mRS and mid-arm circumference (P = 0.02). Furthermore, univariate analysis indicated significant associations between mRS ≥ 3 and age (OR: 1.02; 95%CI: 1.00–1.04), PG-SGA (OR: 1.08; 95%CI: 1.03–1.13), NIHSS (OR: 1.04; 95%CI: 1.02–1.07), dysphagia (OR: 1.69; 95%CI: 1.03–2.77), consciousness (OR: 1.48; 95%CI: 1.07–2.04), and mid-arm circumference (OR: 0.95; 95%CI: 0.90–1.00). In addition, these associations remained significant in multivariate analysis for PG-SGA (OR: 1.07; 95%CI: 1.00–1.13) and NIHSS (OR: 1.04; 95%CI: 1.01–1.07). Conclusion This study revealed a positive correlation between mRS and consciousness status and PG-SGA score, as well as a negative one between mRS and MAC at discharge time.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Stefano Cotti Piccinelli ◽  
Enrico Premi ◽  
Sonia Bonacina ◽  
Nicola Gilberti ◽  
Veronica Vergani ◽  
...  

Abstract Background Arterial Tortuosity Syndrome (ATS) is a rare autosomal recessive disorder characterized by elongated and tortuous arteries. Although ATS showed a significant clinical and pathophysiological overlap with other syndromes involving connective tissues, only few cases of cerebrovascular events related to this syndrome have been described so far. Case presentation We report the case of a 33-years-old male diagnosed with ATS since childhood, that experienced three sudden episodes of expressive aphasia and right hemiparesis with spontaneous resolution. He was treated with recombinant tissue plasminogen activator (r-TPA) at a dosage of 0.9 mg/kg with a complete recovery. Brain Magnetic Resonance Imaging (MRI) showed the absence of acute ischemic lesions and the patient was diagnosed with recurrent transient ischemic attacks (TIA). Intracranial and supra-aortic trunks Magnetic Resonance Angiography (MRA) and Angio-CT scan of the thoracic and abdominal aorta showed marked vessel tortuosity without stenosis. To our knowledge, this is the first reported case of an ATS patient with TIA in young age that was treated with intravenous thrombolysis with recombinant plasminogen activator. Conclusion Our report strengthens the relationship between ATS and juvenile cerebrovascular events, suggesting that an extensive study of body vessels in order to detect potential stenoses or occlusions in these cases is needed. The greater predisposition to cerebrovascular events in ATS could benefit from a more aggressive primary and secondary prevention therapy.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yufeng Zhu ◽  
Xiaoqing Jin ◽  
Lulu Xu ◽  
Pei Han ◽  
Shengwu Lin ◽  
...  

Abstract Background And Objective Cerebral Contusion (CC) is one of the most serious injury types in patients with traumatic brain injury (TBI). In this study, the baseline data, imaging features and laboratory examinations of patients with CC were summarized and analyzed to develop and validate a prediction model of nomogram to evaluate the clinical outcomes of patients. Methods A total of 426 patients with cerebral contusion (CC) admitted to the People’s Hospital of Qinghai Province and Affiliated Hospital of Qingdao University from January 2018 to January 2021 were included in this study, We randomly divided the cohort into a training cohort (n = 284) and a validation cohort (n = 142) with a ratio of 2:1.At Least absolute shrinkage and selection operator (Lasso) regression were used for screening high-risk factors affecting patient prognosis and development of the predictive model. The identification ability and clinical application value of the prediction model were analyzed through the analysis of receiver operating characteristic curve (ROC), calibration curve, and decision curve analysis (DCA). Results Twelve independent prognostic factors, including age, Glasgow Coma Score (GCS), Basal cistern status, Midline shift (MLS), Third ventricle status, intracranial pressure (ICP) and CT grade of cerebral edema,etc., were selected by Lasso regression analysis and included in the nomogram. The model showed good predictive performance, with a C index of (0.87, 95% CI, 0.026–0.952) in the training cohort and (0.93, 95% CI, 0.032–0.965) in the validation cohort. Clinical decision curve analysis (DCA) also showed that the model brought high clinical benefits to patients. Conclusion This study established a high accuracy of nomogram model to predict the prognosis of patients with CC, its low cost, easy to promote, is especially applicable in the acute environment, at the same time, CSF-glucose/lactate ratio(C-G/L), volume of contusion, and mean CT values of edema zone, which were included for the first time in this study, were independent predictors of poor prognosis in patients with CC. However, this model still has some limitations and deficiencies, which require large sample and multi-center prospective studies to verify and improve our results.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Clara G. Chisari ◽  
Simona Toscano ◽  
Sebastiano Arena ◽  
Chiara Finocchiaro ◽  
Arturo Montineri ◽  
...  

Abstract Background The Coronavirus disease 2019 (COVID-19) caused by the new Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) has become a pandemic, affecting the therapeutic management for Multiple Sclerosis (MS). Any decision regarding the discontinuation of high-potency agents for moderate and highly active MS should be carefully evaluated, taking into account the potential risk of rebound of the disease. In particular, no data about clinical outcome of patients with MS receiving Natalizumab (NTZ) during active COVID-19 infection have been reported yet. Cases presentation We reported on 6 patients treated with NTZ for relapsing MS during active COVID-19 infection, who recovered without reporting any worsening or new symptoms. Most of the patients were asymptomatic, with the exception of one patient who had a slight worst COVID-19 clinical course. No patients received O2-therapy or required intensive care. No neurological complications were observed. Conclusions This paper reported the clinical outcome of patients with MS receiving NTZ during active COVID-19 infection. This case series suggests that treatment with NTZ during pandemic is relatively safe and might be continued in selected patients who are infected by COVID-19, thereby reducing the risk of MS disease rebound.


BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yi Xie ◽  
Jia Wen ◽  
Zhihua Zhao ◽  
Hongbo Liu ◽  
Nanchang Xie

Abstract Background Autoimmune encephalitis (AE) with multiple auto-antibodies is of great clinical significance because its complex clinical manifestations and atypical imaging increase the difficulty of diagnosis, differential diagnosis and treatment, which may aggravate the disease, increase the recurrence rate and mortality. The coexistence of anti-Leucinie-rich Glioma Inactivated 1 (LGI1) and anti-γ-aminobutyric acid-beta-receptor 1 (GABABR1) has not been published before. Case presentation We herein present the case of a 60-year-old man with slow response, behavioral changes, psychosis and sleep disorders. Laboratory test included serum hyponatremia, positive serum LGI1 and GABABR1 antibodies using transfected cell-based assays. Electroencephalogram exhibited moderate diffusion abnormality. The patient responded well to steroid impulse treatment and sodium supplement therapy, and did not recur during the follow-up. Conclusions Here we report the first AE characterized by positive LGI1 and GABABR1 antibodies, as well as summarizing AE with multiple auto-antibodies reported so far, hopefully to provide experience for clinical practice.


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