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  • The prevalence of lower urinary tract symptoms based on individual and clinical parameters in patients with multiple sclerosis
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-17
    Fatemeh Nazari; Vahid Shaygannejad; Mehrdad Mohammadi Sichani; Marjan Mansourian; Valiollah Hajhashemi

    Most patients with multiple sclerosis (MS) suffer from bladder dysfunction during the course of the disease. This study was conducted to examine the prevalence of these complications among patients with MS. This cross-sectional study was performed on 602 patients with MS who referred to the neurology clinics of Kashani and Alzahra Hospitals affiliated to Isfahan University of Medical Sciences, Isfahan, Iran. Multistage random cluster sampling was performed and the informed consent form was signed by the subjects. Then, all the data were collected through interviews using the Lower Urinary Tract Symptom Score (LUTSS) developed in accordance with the definitions presented by the International Continence Society (ICS) and the International Prostate Symptom Score (I-PSS) and DASS-21 questionnaire. The data were analyzed using descriptive and inferential statistical tests in SPSS. The prevalence rate of lower urinary tract symptoms (LUTS) was 87.6% among all the subjects, with a similar rate among women (88.0%) and men (86.0%). There was a significant difference between men and women in terms of the prevalence of stress urinary incontinence (SUI), intermittent urine flow, hesitancy, straining, and dribbling (P < 0.050). There was no significant difference between women and men in terms of the prevalence of other symptoms (P > 0.050). A significant difference was observed in the degree of LUTS with age, marital status, marriage duration, education, illness duration, clinical course, disability, anxiety, depression, and stress (P< 0.05). Moreover, logistic regression analysis revealed that there was a higher probability of a urinary problems among patients with MS and a high EDSS score [0.67 (0.507–0.903), P = 0.008]. A high prevalence of LUTS was found among patients with MS. There was a higher probability of a urinary tract problem among patients with MS and a high EDSS score. Therefore, it is recommended that the health system take the necessary measures regarding timely detection and treatment of LUTS among these patients in order to prevent secondary outcomes and improve the quality of life (QOL) of patients with MS.

    更新日期:2020-01-17
  • Safety and tolerability of monthly galcanezumab injections in patients with migraine: integrated results from migraine clinical studies
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-17
    Mark E. Bangs; David Kudrow; Shufang Wang; Tina M. Oakes; Gisela M. Terwindt; Delphine Magis; Laura Yunes-Medina; Virginia L. Stauffer

    Galcanezumab, a humanized monoclonal antibody that selectively binds to calcitonin gene-related peptide, has demonstrated a significant reduction in monthly migraine headache days in phase 2 and 3 trials. In these analyses, we aimed to evaluate the safety and tolerability of galcanezumab compared with placebo for prevention of episodic or chronic migraine. Data were integrated from three double-blind clinical studies for the up to 6-month galcanezumab exposure group (N = 1435), and from five clinical studies for the up to 1-year all-galcanezumab exposure group (N = 2276). Patients received a monthly 120 mg subcutaneous injection of galcanezumab (with a 240 mg loading dose in month 1), 240 mg galcanezumab, or placebo. Outcomes measured were treatment-emergent adverse events (TEAEs), serious AEs (SAEs), and discontinuation due to AEs (DCAEs). Laboratory results, vital signs, electrocardiogram (ECG), suicidal ideation and behavior results were evaluated. TEAEs that occurred more frequently in galcanezumab-treated patients included injection site pain, injection site reactions excluding pain, constipation, vertigo, and pruritus. The proportion of DCAEs among galcanezumab-treated patients ranged between 1.8 and 3.0%, and differed from placebo group for galcanezumab 240 mg (P < 0.05). Fewer than 2.0% of patients in either galcanezumab dose-group compared with 1.0% of placebo-treated patients reported a SAE. There were no clinically meaningful differences between galcanezumab and placebo in laboratory measures, vital signs including blood pressure, ECGs, cardiovascular-related AEs, or suicidal ideation and behavior. Galcanezumab demonstrated a favorable safety and tolerability profile for up to 1 year of treatment for the prevention of migraine. Clinical Trials CGAB = NCT02163993, EVOLVE-1 = NCT02614183, EVOLVE-2 = NCT02614196, REGAIN = NCT02614261, and CGAJ = NCT02614287. All were first posted on 25 November 2015, except CGAB posted on 16 June 2014, and before enrolling the first patient.

    更新日期:2020-01-17
  • Inflammation biomarker discovery in Parkinson’s disease and atypical parkinsonisms
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-17
    Anna Santaella; H. Bea Kuiperij; Anouke van Rumund; Rianne A. J. Esselink; Alain J. van Gool; Bastiaan R. Bloem; Marcel M. Verbeek

    Parkinson’s disease (PD) and atypical parkinsonisms (APD) have overlapping symptoms challenging an early diagnosis. Diagnostic accuracy is important because PD and APD have different prognosis and response to treatment. We aimed to identify diagnostic inflammatory biomarkers of PD and APD in cerebrospinal fluid (CSF) using the multiplex proximity extension assay (PEA) technology and to study possible correlations of biomarkers with disease progression. CSF from a longitudinal cohort study consisting of PD and APD patients (PD, n = 44; multiple system atrophy (MSA), n = 14; vascular parkinsonism (VaP), n = 9; and PD with VaP, n = 7) and controls (n = 25) were analyzed. Concentrations of CCL28 were elevated in PD compared to controls (p = 0.0001). Five other biomarkers differentiated both MSA and PD from controls (p < 0.05) and 10 biomarkers differentiated MSA from controls, of which two proteins, i.e. beta nerve growth factor (β-NGF) and Delta and Notch like epidermal growth factor-related receptor (DNER), were also present at lower levels in MSA compared to PD (both p = 0.032). Two biomarkers (MCP-1 and MMP-10) positively correlated with PD progression (rho > 0.650; p < 0.01). PEA technique identified potential new CSF biomarkers to help to predict the prognosis of PD. Also, we identified new candidate biomarkers to distinguish MSA from PD.

    更新日期:2020-01-17
  • A case report of adult-onset Alexander disease clinically presenting as Parkinson’s disease: is the comorbidity associated with genetic susceptibility?
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-17
    Jongkyu Park; Sung-Tae Park; Jieun Kim; Kyum-Yil Kwon

    Alexander disease is a rare neurological disease characterized by progressive spastic quadriparesis and bulbar palsy. Moreover, certain patients with adult-onset Alexander disease were often misdiagnosed as other neurodegenerative disorders. Herein, we report an adult a 58-year-old woman presented with typical parkinsonism with good levodopa-responsiveness. The patient’s dopamine transporter scanning showed significant striatal depletion, while her brain magnetic resonance imaging revealed bilateral tadpole shape of medulla oblongata and bilateral high signal intensity at both cerebellar dentate nuclei in T2-weighted images, suggesting the possibility of a genetic disorder beyond Parkinson’s disease. The patient’s genetic test resulted in known pathogenic glial fibrillary acidic protein variant, indicating Alexander disease. This unique case highlights genetically diagnosed Alexander disease may present with clinical Parkinson’s disease.

    更新日期:2020-01-17
  • Postoperative collateral formation after indirect bypass for hemorrhagic moyamoya disease
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-17
    Peicong Ge; Qian Zhang; Xun Ye; Xingju Liu; Xiaofeng Deng; Jia Wang; Rong Wang; Yan Zhang; Dong Zhang; Jizong Zhao

    The research on postoperative collateral formation for hemorrhagic moyamoya disease (MMD) evaluated by using digital subtraction angiography (DSA) is limited. Our study objective was to investigate the postoperative collateral formation after indirect bypass for hemorrhagic MMD. All consecutive inpatients with hemorrhagic MMD who received indirect bypass at Beijing Tiantan Hospital, Capital Medical University from January 2010 through December 2018 were screened. The site of the hemorrhage was classified as either anterior or posterior. Postoperative collateral formation was evaluated on lateral views using the Matsushima scale. Univariate and multivariate logistic regression analyses were carried out to determine the factors influencing postoperative collateral formation. Six-four patients (64 hemispheres) were included in this study. After a median 8.5 months DSA follow-up, 14 (21.9%) hemispheres had grade A collateral circulation, 13 (20.3%) had grade B, and 37 (57.8%) had grade C. Twenty-seven (42.2%) hemispheres had good postoperative collateral formation and 37 (57.8%) had poor postoperative collateral formation. The univariate logistic regression analyses showed that age at operation (OR, 0.954; 95% CI, 0.908–1.003; p = 0.066), hemorrhagic site (OR, 4.694; 95% CI, 1.582–13.923; p = 0.005), and PCA involvement (OR, 3.474; 95% CI, 0.922–13.086; p = 0.066) may effect postoperative collateral formation. The multivariate logistic regression analyses showed that only anterior hemorrhage (OR, 5.222; 95% CI, 1.605–16.987; p = 0.006) was significantly related to good postoperative collateral formation. Anterior hemorrhage was significantly related to good postoperative collateral formation after indirect bypass.

    更新日期:2020-01-17
  • Secondary cardiac involvement in anti-SRP-antibody-positive myopathy: an 87-year-old woman with heart failure symptoms as the first clinical presentation
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-17
    Arika Hara; Ryota Amano; Hiroaki Yokote; Masahide Ijima; Satoshi Zeniya; Toshiki Uchihara; Sawako Yada; Mayumi Masumura; Hidenobu Takei; Ichizo Nishino; Shuta Toru

    Necrotizing myopathy (NM) is defined by the dominant pathological feature of necrosis of muscle fibers without substantial lymphocytic inflammatory infiltration. Anti-signal recognition particle (SRP)-antibody-positive myopathy is related to NM. Anti-SRP-antibody-positive myopathy can comorbid with other disorders in some patients, however, comorbidity with malignant tumor and myopericarditis has still not been reported. An 87-year-old woman with dyspnea on exertion and leg edema was referred to our hospital because of suspected heart failure and elevated serum creatine kinase level. Upon hospitalization, she developed muscle weakness predominantly in the proximal muscles. Muscle biopsy and immunological blood test led to the diagnosis of anti-SRP-antibody-positive myopathy. A colon carcinoma was also found and surgically removed. The muscle weakness remained despite the tumor resection and treatment with methylprednisolone. Cardiac screening revealed arrhythmia and diastolic dysfunction with pericardial effusion, which recovered with intravenous immunoglobulin (IVIg) treatment. We reported the first case of anti-SRP-positive myopathy comorbid with colon carcinoma and myopericarditis. This case is rare in the point that heart failure symptoms were the first clinical presentation. The underlying mechanism is still not clear, however, physicians should be carefully aware of the neoplasm and cardiac involvement in anti-SRP-antibody positive-myopathy patients and should consider farther evaluation and management.

    更新日期:2020-01-17
  • The prediction of acute ischemic stroke patients’ long-term functional outcomes treated with bridging therapy
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-16
    Yu-Jun Chang; Chi-Kuang Liu; Wen-Pei Wu; Shih-Chun Wang; Wei-Liang Chen; Chih-Ming Lin

    Intravenous thrombolysis therapy (IVT) bridged with intra-arterial thrombectomy (IAT) has recently been recommended as favorable treatment option to ensure that the thrombolytic effect is delivered to the affected region for acute ischemic stroke patients. However, there remains a lack of studies reporting outcome prediction in this group of patients. In this study, we aimed to identify indicators from baseline data that could be used for early prediction of long-term functional outcomes. This retrospective single center cohort study included acute ischemic stroke (AIS) patients (n = 92) who received IVT and IAT. Functional outcomes were assessed by the National Institute of Health Stroke Scale (NIHSS), modified Rankin Scale (mRS) and Barthel Index. We investigated the relationship between functional outcomes at one-year post-procedure and potential predictors such as occlusion site, modified thrombolysis in cerebral infarction (mTICI) score following the IVT/IAT procedure, and degree of stenosis measured by carotid duplex. 67.4% of the studied patients had satisfactory outcomes with mTICI grades of 2b or 3. From baseline to one-year post-procedure, the NIHSS score improved in 88.0%, the mRS score improved in 69.6%, and the Barthel index improved with 59.8%. Patients with internal carotid artery (ICA) or vertebral artery (VA) stenosis detected by carotid duplex had significantly poorer functional outcomes, measured by the mRS score and Barthel index. In patients with a satisfactory mTICI grade, improvement in the mRS score was only observed in 60.0% of patients with ICA stenosis, compared to 93.8% without ICA stenosis. The VA stenosis was the most significant factor associated with the improvement of mRS (OR = 0.08; 95% CI: 0.01–0.63; P = 0.017) and Barthel Index (OR = 0.06; 95% CI: 0.01–0.47; P = 0.008) in multiple regression analysis. ICA or VA stenosis detected by carotid duplex could serve as predictors of significantly poorer functional outcomes in stroke patients treated with bridging therapy; they might be useful clinical markers, particularly as stenosis could be detected by a non-invasive and portable method.

    更新日期:2020-01-16
  • A new approach to characterize postural deficits in chemotherapy-induced peripheral neuropathy and to analyze postural adaptions after an exercise intervention
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-16
    Sarah Kneis; Anja Wehrle; Daniela Dalin; Isabella Katharina Wiesmeier; Johann Lambeck; Albert Gollhofer; Hartmut Bertz; Christoph Maurer

    Postural instability presents a common and disabling consequence of chemotherapy-induced peripheral neuropathy (CIPN). However, knowledge about postural behavior of CIPN patients is sparse. With this pilot study, we used a new approach to i) characterize postural impairments as compared to healthy subjects, ii) allocate possible abnormalities to a set of parameters describing sensorimotor function, and iii) evaluate the effects of a balance-based exercise intervention. We analyzed spontaneous and externally perturbed postural control in eight CIPN patients before and after a balance-based exercise intervention by using a modification of an established postural control model. These findings were compared to 15 matched healthy subjects. Spontaneous sway amplitude and velocity were larger in CIPN patients compared to healthy subjects. CIPN patients’ reactions to external perturbations were smaller compared to healthy subjects, indicating that patients favor vestibular over proprioceptive sensory information. The balance-based exercise intervention up-weighted proprioceptive information in patients. CIPN patients’ major postural deficit may relate to underuse of proprioceptive information that results in a less accurate posture control as spontaneous sway results indicate. The balance-based exercise intervention is able to partially correct for this abnormality. Our study contributes to a better understanding of postural impairments in CIPN patients and suggests an effective treatment strategy. German Clinical Trials Register: DRKS00004340, retrospectively registered 04 January 2013.

    更新日期:2020-01-16
  • “The strategies are the same, the problems may be different”: a qualitative study exploring the experiences of healthcare and service providers with medication therapy management for individuals with spinal cord injury/dysfunction
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-15
    Sara J. T. Guilcher; Amanda C. Everall; Tejal Patel; Tanya L. Packer; Sander L. Hitzig; Stephanie R. Cimino; Aisha K. Lofters

    Persons with spinal cord injury/dysfunction (SCI/D) often take multiple medications to treat their secondary complications and chronic conditions (multimorbidity). Multiple healthcare and service providers are often involved in care, which can result in increased risk of fragmentation of care. Optimal medication therapy management (MTM) is essential to ensure therapeutic benefit from medication regimens. However, little is known about the experiences of providers in supporting persons with SCI/D with MTM. Telephone interviews were conducted to explore healthcare and service providers’ experiences with MTM for persons with SCI/D. Participants were recruited through clinical organizations and researchers’ personal contacts. Participants were purposefully selected for diversity in profession and were required to be English speaking and to have provided care to at least one person with SCI/D. The qualitative interviews followed a semi-structured interview guide. Data display matrices were used in a constant comparative process for descriptive and interpretive analysis. Thirty-two interviews were conducted from April to December 2018. Each profession had distinct views on their roles in facilitating MTM for persons with SCI/D, which aligned with their respective scopes of practice. Shared provider tasks included tailoring medications, providing education, and exploring medication alternatives. Most participants felt that the care they provided for persons with SCI/D was similar to the care that they provided to other patients, with some differences relating to the physical limitations and medical complexity associated with SCI/D. Five factors were identified that impacted participants’ abilities to provide MTM for persons with SCI/D: patient self-management skills, provider knowledge and confidence, provider-patient relationships, interprofessional collaboration, and provider funding models including the use of technology-supported consultations. While participants described commonalities in the barriers and enablers associated with providing MTM to persons with SCI/D and other populations, there were unique considerations identified. These SCI/D-specific considerations resulted in recommendations for improvements in MTM for this population. Future research should include perspectives from persons with SCI/D.

    更新日期:2020-01-15
  • Malignant transformation of pleomorphic xanthoastrocytoma and differential diagnosis: case report
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-15
    Noriyuki Watanabe; Eiichi Ishikawa; Hidehiro Kohzuki; Noriaki Sakamoto; Alexander Zaboronok; Masahide Matsuda; Makoto Shibuya; Akira Matsumura

    Pleomorphic xanthoastrocytoma (PXA) is a rare astrocytic glioma, characterized by large pleomorphic and frequently multinucleated cells, spindle and lipidized cells, a dense pericellular reticulin network, and numerous eosinophilic granular bodies according to the grade II glial tumor standards of the World Health Organization’s (WHO) 2016 guidelines. PXA rarely transforms into anaplastic PXA or glioblastoma (GBM) and anaplastic PXA, classified as WHO grade III, has a more aggressive clinical behavior with poorer prognosis than PXA. Here we describe an unusual case of PXA in a 19-year-old woman, first admitted with headache and a mass in the left temporal lobe in 2005 that was removed. Twelve years later, she returned with left temporal headache, diplopia and tinnitus. A local tumor recurrence was found, and a second resection was performed. The specimen showed highly malignant findings, such as necrosis, microvascular proliferation, and multiple mitoses. The integrated diagnosis was made as high grade glioma, probably derived from PXA. Immunohistochemical (IHC) stains were positive for oligo2, and approximately 21% positive for Ki-67, while negative for CD34, IDH1 R132H. INI1 and ATRX were retained. As the histological classification was glioblastoma, the patient received GBM-appropriate chemotherapy and radiation therapy and outpatient follow-ups have demonstrated no obvious symptoms for 1 year after surgery. Additional molecular analyses found BRAF V600E mutations in both resections, supporting the idea that the recurrent tumor had derived from PXA. This case highlights the complexities of differential diagnosis based on the World Health Organization’s 2016 guidelines. More integrated criteria to differentiate anaplastic PXA from GBM and epithelioid GBM, combined with genetic screening results, might be needed.

    更新日期:2020-01-15
  • Use of analgesics in acute stroke patients with inability to self-report pain: a retrospective cohort study
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-14
    J. Schuster; C. Hoyer; A. Ebert; A. Alonso

    Pain is a common and burdensome complication in patients with acute stroke. We assessed the impact of impaired communication in stroke patients on pain assessment and treatment. We included 909 (507 male, mean age 71.8 years) patients admitted to our stroke unit from 01/2015 to 12/2015 in the analysis. Patients were assigned to four groups: able to communicate (AC), not able to communicate prior to index stroke (P-NAC), due to focal symptoms of index stroke (S-NAC), due to a reduced level of consciousness (C-NAC). Pain prevalence, documentation of pain and use of analgesics were evaluated. C-NAC patients were excluded from analyses regarding analgesic treatment due to relevant differences in patient characteristics. 746 patients (82.1%) were classified as AC, 25 (2.8%) as P-NAC, 90 (9.9%) as S-NAC and 48 (5.3%) as C-NAC. Pain was documented on the Numeric Rating Scale and in form of free text by nurses and physicians. Nurses documented pain more frequently than physicians (p < 0.001). Pain prevalence was 47.0% (n.s. between groups). The use of analgesic medication increased from 48.7% in the AC group, to 76.0% in the P-NAC group, and 77.8% in the S-NAC group (p < 0.001). Opioid use was significantly more frequent in NAC patients (p < 0.001). The response to the treatment was poorly documented with significantly lowest rates in S-NAC patients (p < 0.001). Our study suggests that post-stroke pain in patients with inability to communicate is not attended enough, not systematically assessed and therefore not sufficiently treated.

    更新日期:2020-01-14
  • Association between NMD3 and symptoms of Parkinson’s disease in Chinese patients
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-14
    Hui Wu; Hui Li; Zhiqiang Shi; Jiajia Tang; Shuya Mei; Tianyi Ai; Zhenzhou He

    Parkinson’s disease (PD) is a progressive neurodegenerative movement disorder that is characterized by motor symptoms such as tremor, rigidity, slowness of movement and problems with gait. Large-scale meta-analyses of genome-wide association studies (GWAS) have identified few susceptibility loci in patients with sporadic PD. The aim of this study was to investigate the association between NMD3 single nucleotide polymorphism (SNP) and symptoms in PD patients in South China. A total of 217 PD patients were recruited in this study and genotyped by using the SNaPshot technique and the polymerase chain reaction. All subjects were evaluated by the Mini-Mental State Examination (MMSE), Beijing version Montreal Cognitive Assessment (MoCA), Sniffin’ Sticks 16 (SS-16), Hamilton Anxiety Rating Scale, Hamilton Depression Rating Scale, 39-item Parkinson’s Disease Questionnaire (PDQ-39) and MDS Unified PD Rating Scale (MDS-UPDRS). NMD3 rs34016896 (C > T) carriers have worse cognitive function than wild types (MMSE: p = 0.042, NMD3 wild type: 27.44 ± 2.89, NMD3 carriers: 26.31 ± 3.79; MoCA: p = 0.005, NMD3 wild type: 23.15 ± 4.20, NMD3 carriers: 20.75 ± 6.68). The recessive and overdominant model of NMD3 rs34016896 was associated with cognitive impairment in PD patients.

    更新日期:2020-01-14
  • INTERnational Project for the Evaluation of “activE Rehabilitation” (inter-PEER) – a protocol for a prospective cohort study of community peer-based training programmes for people with spinal cord injury
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-11
    Anestis Divanoglou; Tomasz Tasiemski; Sophie Jörgensen

    Active Rehabilitation (AR) is a community peer-based concept for people with spinal cord injury (SCI) that is primarily delivered through brief residential training programmes. Despite a plethora of positive anecdotal evidence of AR programmes as life-changing experiences, the effects of AR-programmes have not been evaluated scientifically. Here, we present the protocol of the INTERnational Project for the Evaluation of “activE Rehabilitation” (inter-PEER) aiming to evaluate the effects of AR training programmes on community-dwelling individuals with SCI. International prospective cohort study that recruits consecutive participants in AR training programmes. Evaluation is conducted through a web-based survey at 3 time-points: at the commencement and completion of the training programme, and 3 months after the end of the training programme. Evaluation also includes a practical wheelchair skills test at the first two time-points. The primary outcome measures are the Spinal Cord Independence Measure Self-report (SCIM-SR), the Queensland Evaluation of Wheelchair Skills test (QEWS), the Wheelchair Skills Test Questionnaire (WST-Q) and the Moorong Self-Efficacy Scale (MSES). The secondary outcome measures are the 11-item Life Satisfaction Questionnaire (LiSat-11), the Utrecht Scale for Evaluation of Rehabilitation-Participation (USER-Participation), the Leisure Time Physical Activity Questionnaire for people with SCI (LTPAQ-SCI) and the 10-item Connor-Davidson Resilience Scale (CD-RISC-10). We piloted the implementation of the protocol in Sweden in 7 participants with diverse SCI and sociodemographic characteristics and collected feedback from participants and peer-mentors about study procedures through interviews, a workshop and field observations. Inter-PEER is the first initiative to propose a systematic evaluation of the effects of AR training programmes among individuals with SCI. The project is a collaborative work of multiple stakeholders, including researchers, clinicians, peer mentors with SCI, and administrators of organisations providing AR programmes. The inter-PEER uses standardised outcome measures relevant to the AR context, it will facilitate quality evaluations of community peer-based programmes, stimulate international collaborations, and inform the design of randomised controlled trials on the effects of AR training programmes.

    更新日期:2020-01-13
  • Pain in children and adolescents with cerebral palsy – a cross-sectional register study of 3545 individuals
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-11
    Elsa Eriksson; Gunnar Hägglund; Ann I. Alriksson-Schmidt

    Pain is a common problem for individuals with cerebral palsy (CP). In Sweden, 95% of children and adolescents with CP are followed in a national follow-up programme (CPUP), which includes data on pain. The purpose of this study was to investigate the prevalence of pain based on age, sex, gross motor function and source of report (self or proxy). Pain intensity, pain site, and how much pain disturbed sleep and daily activities were also studied. This was a cross-sectional register study based on all participants in CPUP, 4–18-years of age, with data reported in 2017–2018. Gross motor function was classified using the Gross Motor Function Classification System (GMFCS). Logistic regression was used to analyse prevalence of pain and how much pain had disturbed sleep and daily activities in the last four weeks. In total, 3545 participants (2065 boys) were included. The overall prevalence of pain was 44%. Older age and female sex were associated with higher risk of pain with odds ratios of 1.07 (95% confidence interval (CI) 1.06–1.09) and 1.28 (CI 1.12–1.47), respectively. Pain was most common in the lower extremities. There was no statistically significant difference in prevalence of pain related to source of report. Pain intensity was higher at older ages and higher GMFCS-levels. Hip/thigh pain and abdominal pain were associated with the most intense pain. Of those who reported pain, pain disturbed sleep for 36% and daily activities for 61%. Both pain frequency and pain intensity were higher at higher age. Pain intensity increased with increasing GMFCS-level. Two-thirds of all children and adolescents with CP reported that their pain disturbed their daily activities, and one-third reported that pain disturbed their sleep.

    更新日期:2020-01-13
  • Cerebral arterial air embolism secondary to iatrogenic left atrial-esophageal fistula: a case report
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-11
    Ping Zhang; Yi Bian

    Cerebral arterial air embolism is a life-threatening complication that can result in neurologic deficits or death. Sometimes it is iatrogenic, presented as a complication of invasive medical procedures. Here we describe a case of cerebral arterial air embolism secondary to iatrogenic left atrial-esophageal fistula, of which the diagnosis might be covered up by the complicated pathophysiologic changes. A 68-year-old man presented with unconsciousness hours after aphasia and right hemiplegia, accompanied with hematemesis and fever. He had a history of atrial fibrillation, treated by radiofrequency catheter ablation 1 month ago. Brain CT displayed massive air embolism in left hemisphere, as well as right parietal lobe. Chest CT demonstrated a focus of air in the left atrium, which highly suggested an atrial-esophageal fistula. The patient received high flow (6 L/min) oxygen therapy. Intravenous antibiotics including imipenem and vancomycin were administered together with crystalloid rehydration. Supportive therapies were given including intubation, mechanical ventilation and vasopressor use. Because of the patient’s unstable condition and poor prognosis, surgical repair was considered but not pursued. The patient presented a very fast deterioration of cardiac function and circulatory failure, and finally died from cardiac arrest. Clinicians must have a high index of suspicion for atrial-esophageal fistula for patients presenting with chest discomfort, new onset of stroke, upper gastrointestinal bleeding, and development of sepsis as long as 50 days after the ablation for atrial fibrillation. Urgent CT can ultimately establish the diagnosis in most cases.

    更新日期:2020-01-13
  • Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-13
    Filipa Bastos; Mathieu Quinodoz; Marie-Claude Addor; Beryl Royer-Bertrand; Heidi Fodstad; Carlo Rivolta; Claudia Poloni; Andrea Superti-Furga; Eliane Roulet-Perez; Sebastien Lebon

    A new monogenic neurodegenerative disease affecting ribosomal metabolism has recently been identified in association with a monoallelic UBTF putative gain of function variant (NM_001076683.1:c.628G>A, hg19). Phenotype is consistent among these probands with progressive motor, cognitive, and behavioural regression in early to middle childhood. We report on a child with this monoallelic UBTF variant who presented with progressive disease including regression, episodes of subacute deterioration during febrile illnesses and a remarkable EEG pattern with a transient pattern of semi-periodic slow waves. This case further supports the phenotype-genotype correlation of neurodegeneration associated with UBTF c.628G>A. Moreover, it brings new insights into the clinical features and EEG that could possibly serve as diagnostic markers of this otherwise nonspecific phenotype.

    更新日期:2020-01-13
  • Disseminated Cryptococcosis revealed by transverse myelitis in Immunocompetent patient: a case report and review of the literature
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-10
    Fangfang Qu; Zhenzhen Qu; Yingqian Lv; Bo Song; Bailin Wu

    Transverse myelitis (TM) is due to inflammatory spinal cord injury with bilateral neurologic involvement, which is sensory, motor, or autonomic in nature. It may be associated with autoimmune disease, vaccination, intoxication and infections. The most common infection cause of TM is Coxsackie virus and Mycoplasma pneumoniae. The cryptococcosis is rare. We present the case of disseminated cryptococcosis revealed by transverse myelitis in an immunocompetent 55-year-old male patient. The literature review is also stated. The 55-year-old man suffered from gradual numbness, weakness in both lower limbs and finally paralyzed in the bed. The thoracic spine Computed tomography (CT) was normal, but multiple nodules in the lung were accidentally discovered. Thoracic Magnetic Resonance Imaging (MRI) showed diffused thoracic spinal cord thickening and extensively intramedullary T2 hyper intensity areas. Gadolinium contrast enhanced T1WI showed an intramedullary circle-enhanced nodule at 9th thoracic level. Diagnosis was made by histological examination of the bilateral lung biopsy. The patient was treated successfully with systemic amphotericin B liposome and fluconazole and intrathecal dexamethasone and amphotericin B liposome. This is a patient with disseminated cryptococcosis involving the lung, spinal cord and adrenal glands, which is rare in the absence of immunodeficiency.

    更新日期:2020-01-11
  • Cerebro-spinal fluid biomarker levels: phosphorylated tau (T) and total tau (N) as markers for rate of progression in Alzheimer’s disease
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-09
    Carina Wattmo; Kaj Blennow; Oskar Hansson

    We investigated the potential associations between cerebro-spinal fluid (CSF) levels of phosphorylated tau (P-tau) and total tau (T-tau) with short-term response to cholinesterase inhibitor (ChEI) treatment, longitudinal outcome and progression rates in Alzheimer’s disease (AD). This prospective, observational study included 129 participants clinically diagnosed with mild-to-moderate AD, who underwent a lumbar puncture. The CSF biomarkers amyloid-β1–42 (Aβ42), P-tau and T-tau were analysed with xMAP technology. Cognitive, global, instrumental and basic activities of daily living (ADL) capacities at the start of ChEI therapy and semi-annually over 3 years were evaluated. All patients had abnormal Aβ42 (A+). Fifty-eight individuals (45%) exhibited normal P-tau and T-tau (A+ T– (N)–), 12 (9%) abnormal P-tau/normal T-tau (A+ T+ (N)–), 17 (13%) normal P-tau/abnormal T-tau (A+ T– (N)+) and 42 (33%) abnormal P-tau and T-tau (A+ T+ (N)+). The participants with A+ T+ (N)+ were younger than A+ T– (N)+ at the estimated onset of AD and the initiation of ChEIs. The proportion of 6-month responders to ChEI and deterioration/year after start of treatment did not differ between the AT(N) profiles in any scales. A higher percentage of globally improved/unchanged patients was exhibited in the A+ T– (N)– group after 12, 30 and 36 months of ChEI therapy but not at other assessments. In apolipoprotein E (APOE) ε4-carriers, linear relationships were found between greater cognitive decline/year and higher tau; Mini-Mental State Examination score – T-tau (rs = − 0.257, p = 0.014) and Alzheimer’s Disease Assessment Scale–cognitive subscale – P-tau (rs = − 0.242, p = 0.022). A correlation between faster progression in instrumental ADL (IADL) and higher T-tau was also detected (rs = − 0.232, p = 0.028). These associations were not demonstrated in non-ε4-carriers. Younger age and faster global deterioration were observed in AD patients with pathologic tau and neurodegeneration, whereas more rapid cognitive and IADL decline were related to higher P-tau or T-tau in APOE ε4-carriers only. The results might indicate an association between more pronounced tau pathology/neuronal injury and the APOE ε4-allele leading to a worse prognosis. Our findings showed that the AT(N) biomarker profiles have limited utility to predict AD progression rates and, thus, measure change and interpreting outcomes from clinical trials of future therapies.

    更新日期:2020-01-09
  • Propionibacterium acnes-associated chronic hypertrophic pachymeningitis followed by refractory otitis media: a case report
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-09
    Eiichiro Amano; Keisuke Uchida; Tasuku Ishihara; Shinichi Otsu; Akira Machida; Yoshinobu Eishi

    Hypertrophic pachymeningitis (HP) is a rare disorder that involves localized or diffuse thickening of the dura mater. HP is associated with various inflammatory, infectious, and malignant diseases, such as rheumatic arthritis, sarcoidosis, anti-neutrophil cytoplasmic antibody-associated vasculitis, IgG4-related disorders, syphilis, tuberculosis, bacterial and fungal infections, cancer, and idiopathic diseases, when evaluation fails to reveal a cause. Among them, chronic infection with Propionibacterium acnes is a rare etiology of HP, and its pathology remains unclear. An 80-year-old man having refractory otitis media with effusion of the right ear presented with progressive right-sided headache and nausea. Post-contrast brain magnetic resonance imaging revealed right mastoiditis and remarkable thickening of the dura mater and enhancement of pia mater extending from the right middle cranial fossa to the temporal lobe. HP secondary to middle ear infection was suspected, and a biopsy of the right mastoid was performed. An anaerobic culture of the biopsied right mastoid showed the growth of P. acnes, and histopathological examination using P. acnes-specific monoclonal antibody (PAB antibody) revealed the infiltration of inflammatory cells with P. acnes. Moreover, using PAB antibody, P. acnes was detected in the biopsy specimen of the thickening dura mater. No granulomas were identified in either specimen. HP was resolved with long-term administration of antibiotics and steroids. This is the first documentation of pathologically demonstrated chronic HP associated with P. acnes infection followed by refractory otitis media. This report showed that chronic latent P. acnes infection induces chronic inflammation.

    更新日期:2020-01-09
  • Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-09
    Berrin Monteleone; Keith Hyland

    Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder with heterogeneous phenotypic spectrum resulting from disease-causing variants in the dopa decarboxylase (DDC) gene. Consensus guidelines recommend dopamine agonists, monoamine oxidase inhibitors, and other symptomatic treatments, but most patients have an unrelenting disease course with no response to these therapies. We describe 2 African American siblings with AADC deficiency and identify 2 DDC gene variants not previously associated with the disorder. The patients were evaluated for cognitive and neurologic impairments. Diagnosis of AADC deficiency was initially based on evaluation of urine and plasma metabolites, followed by targeted DDC gene sequencing. The first patient, a firstborn African American female, had moderate elevations of vanillactic and vanilpyruvic acids, and slight elevation of N-acetylvanilalanine in urine. The second patient, an African American female and younger sibling of the first patient, had low AADC enzyme activity and elevated 3-O-methyldopa levels in plasma. Genetic testing confirmed that both siblings possessed the same 2 DDC gene variants, which were identified as NM_000790.3: c.48C > A (p.Tyr16Ter) and NM_000790.3: c.116G > C (p.Arg39Pro). This report describes 2 previously unknown patients with AADC deficiency and confirmed the presence of 2 DDC gene variants not previously associated with this disorder. Further research is needed to identify disease-modifying treatments for this devastating neurometabolic disorder. Gene therapy with a recombinant adeno-associated viral vector serotype 2 carrying the gene for the human AADC protein (AAV2-hAADC) is currently in clinical development.

    更新日期:2020-01-09
  • Comparing healthcare cost associated with the use of enzyme-inducing and non-enzyme active antiepileptic drugs in elderly patients with epilepsy in the UK: a long-term retrospective, matched cohort study
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-08
    Simon Borghs; Laura Byram; Jane Chan; Peter Dedeken; John Logan; Victor Kiri; Matthias Noack-Rink; Philip N. Patsalos; Solène Thieffry

    In elderly patients (≥65 years of age) with epilepsy who take medications for comorbid conditions, some antiepileptic drugs (AEDs) may alter the metabolism of other treatments and increase the risk of adverse consequences and healthcare utilisation. This analysis compares healthcare costs associated with enzyme-inducing AEDs (EIAEDs) and non-enzyme active AEDs (nEAAEDs) use in elderly patients with epilepsy. This retrospective matched cohort study used the Clinical Practice Research Datalink (CPRD) of UK primary care medical records, linked to the Hospital Episode Statistics (HES) database. Selected patients with epilepsy were ≥ 65 years and prescribed an EIAED or nEAAED between 2001 and 2010 (index) after ≥1 year without AEDs (baseline) and followed until the first occurrence of the following: end of HES data coverage, end of GP registration, or death; practice’s up-to-standard status or addition of an AED belonging to another cohort or discontinuation of the last AED of that cohort. Propensity score matching reduced confounding factor effects between cohorts. Key outcomes included time to cohort treatment failure, time to index AED treatment failure, and direct healthcare costs in 2014 Pound Sterling (£) values. Overall, 1425 elderly patients were included: 964 with EIAEDs and 461 with nEAAEDs. At baseline, the EIAED cohort was older (mean age, 76.2 vs. 75.1 years) and a higher proportion were male. Baseline direct healthcare costs were similar. After matching (n = 210 each), and over the entire follow-up period, median monthly direct healthcare costs were higher for patients taking EIAEDs than nEAAEDs (£403 vs. £317; p = 0.0150, Mann-Whitney U). Costs were higher for patients remaining in the EIAED cohort after 3 follow-up years. The median time to cohort treatment failure for the EIAED cohort was 1110 days vs. 1175 days for the nEAAED cohort. Newly treated elderly patients with epilepsy were more likely to be prescribed EIAEDs than nEAAEDs. In matched cohorts, elderly patients with epilepsy treated with EIAEDs had higher average total direct and epilepsy-related healthcare costs than nEAAED-treated patients; this difference was greater than previously reported in the overall adult population. Changing treatment practices could improve patient care and reduce costs.

    更新日期:2020-01-08
  • T2 mapping of molecular subtypes of WHO grade II/III gliomas
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-08
    Maike Kern; Timo Alexander Auer; Thomas Picht; Martin Misch; Edzard Wiener

    According to the new WHO classification from 2016, molecular profiles have shown to provide reliable information about prognosis and treatment response. The purpose of our study is to evaluate the diagnostic potential of non-invasive quantitative T2 mapping in the detection of IDH1/2 mutation status in grade II-III gliomas. Retrospective evaluation of MR examinations in 30 patients with histopathological proven WHO-grade II (n = 9) and III (n = 21) astrocytomas (18 IDH-mutated, 12 IDH-wildtype). Consensus annotation by two observers by use of ROI’s in quantitative T2-mapping sequences were performed in all patients. T2 relaxation times were measured pixelwise. A significant difference (p = 0,0037) between the central region of IDH-mutated tumors (356,83 ± 114,97 ms) and the IDH-wildtype (199,92 ± 53,13 ms) was found. Furthermore, relaxation times between the central region (322,62 ± 127,41 ms) and the peripheral region (211,1 ± 74,16 ms) of WHO grade II and III astrocytomas differed significantly (p = 0,0021). The central regions relaxation time of WHO-grade II (227,44 ± 80,09 ms) and III gliomas (322,62 ± 127,41 ms) did not differ significantly (p = 0,2276). The difference between the smallest and the largest T2 value (so called “range”) is significantly larger (p = 0,0017) in IDH-mutated tumors (230,89 ± 121,11 ms) than in the IDH-wildtype (96,33 ± 101,46 ms). Interobserver variability showed no significant differences. Quantitative evaluation of T2-mapping relaxation times shows significant differences regarding the IDH-status in WHO grade II and III gliomas adding important information regarding the new 2016 World Health Organization (WHO) Classification of tumors of the central nervous system. This to our knowledge is the first study regarding T2 mapping and the IDH1/2 status shows that the mutational status seems to be more important for the appearance on T2 images than the WHO grade.

    更新日期:2020-01-08
  • Venous sinus stenting improves cerebral autoregulation in a patient with venous sinus stenosis: a case report
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-08
    Meiyan Jia; Zhen-Ni Guo; Hang Jin; Xiuli Yan; Mingchao Shi; Xin Sun; Hongyin Ma; Shan Lv; Yi Yang

    Venous sinus stenosis (VSS) is a type of cerebral venous vascular disease. Cerebral autoregulation is an indicator of cerebral arterial function. The cerebral circulatory system is composed of the venous system and arterial system. Impaired venous function may affect arterial function. Thus, cerebral venous stenosis may influence cerebral autoregulation. In this case, a 50-year-old woman with transient blindness and headache was admitted to the hospital. The patient was diagnosed with VSS. A stent was placed at the stenosis. The stent released the intravenous pressure and remitted the patient’s symptoms. Measurements of dynamic cerebral autoregulation (dCA) were performed at 3 time points: before stenting, after stenting, and 3 months later. The dCA gradually improved after stenting. VSS may have an influence on cerebral autoregulation, and effective treatment improves cerebral autoregulation in patients with VSS.

    更新日期:2020-01-08
  • Experienced pain after stroke: a cross-sectional 5-year follow-up study
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-07
    Emma Westerlind; Ramanjit Singh; Hanna C. Persson; Katharina S. Sunnerhagen

    Stroke is one of the most common cause of disability worldwide. Pain is common in both stroke survivors and in the general population. Consequences of post-stroke pain (PSP) include reduced quality of life and are important to consider. The aim of the current study was to explore the experience of pain 5 years after stroke, and factors associated with the experience of pain. Inclusion criteria were: First ever stroke, treated at Sahlgrenska University Hospital, Sweden, during an 18 months period in 2009–2010, aged 18 years or older. Furthermore, the participants had to respond to a set of questionnaires 5 years post-stroke. Baseline data were collected from medical records and follow-up data from the set of questionnaires. The primary outcome was based on the question Do you experience pain? Predictors and explanatory factors for experiencing more frequent pain were analysed with logistic regression. A total of 281 participants were included. Almost 40% experienced pain to some degree 5 years post-stroke (15% reported pain frequently), and 25% felt that their needs for pain treatment were not met. The participants experiencing more frequent pain reported poorer quality of life, self-perceived health status and recovery post-stroke. Functional dependency at discharge from hospital, experiencing depression at follow up and restricted mobility at follow up were all associated with more frequent pain. Pain is common 5 years post-stroke and the treatment is not perceived as optimal. The persons experiencing more frequent pain seem to rate their health and recovery worse than the persons experiencing less frequent pain. Most of the factors associated with more frequent pain were treatable and this emphasize the importance of standardised follow-up care that takes pain into consideration.

    更新日期:2020-01-07
  • Prevalence of stroke and stroke related risk factors: a population based cross sectional survey in southwestern China
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-07
    Xingyang Yi; Hua Luo; Ju Zhou; Ming Yu; Xiaorong Chen; Lili Tan; Wei Wei; Jie Li

    Stroke and its risk factors epidemiological survey can help identify individuals at higher risk and therefore promote stroke prevention strategies. The aim of this study was to estimate the current prevalence of stroke and high risk stroke population, and evaluate stroke associated risk factors in southwestern China. This was a multi-center, cross sectional survey in southwestern China from May 2015 to September 2015. The eight communities were selected at random, and 17,413 residents aged ≥40 years volunteered to participate in this survey. Data were collected through face-to-face survey using a structured questionnaire. Five hundred twenty-one participants with incomplete questionnaires on stroke history or risk factors records were excluded. A total of 16,892 people included in analysis. The overall prevalence of stroke was 3.1% (95% CI 2.6–3.9%), 17.1% of participants were the high risk stroke population. After full adjustments, hypertension, diabetes, dyslipidemia, overweight, lack of exercise and family history of stroke were significantly associated with overall stroke and ischemic stroke. The largest contributor was hypertension (population-attributable risk 23.6%), followed by dyslipidemia, physical inactivity, family history of stroke, diabetes, and overweight. However, only hypertension (OR = 3.66, 95% CI 1.82–8.23) was significantly associated with hemorrhagic stroke. The prevalence of stroke and high risk stroke population was high among adults aged ≥40 years in southwestern China. Hypertension, dyslipidemia and lack of exercise were stronger contributors for stroke, these findings suggest that individual-level and population-level interventions for these leading risk factors are necessary to prevent stroke.

    更新日期:2020-01-07
  • Early diagnostic value of serum procalcitonin levels for catheter-related blood stream infection in first-ever acute ischemic stroke patients
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-07
    Yicheng Xu; Ruiwei Chen; Wei Qin; Peifu Wang; Peiyao Li; Wenli Hu; Jichen Du

    The traditional approaches for diagnosing catheter-related bloodstream infection(CRBSI) is time consuming, which could not meet the clinical requirement. Our aim was to investigate the value of serum procalcitonin(PCT) in predicting CRBSI in first-ever acute ischemic stroke patients with central venous catheters (CVCs). This was a retrospective study. First-ever acute ischemic stroke patients hospitalized in neurological intensive care unit(NICU) of Aerospace Center Hospital and NICU of Beijing Chaoyang Hospital during January 2010 and December 2017 with clinically suspected CRBSI were enrolled. Peripheral blood white blood cell (WBC) count, neutrophils percentage(NE%), the levels of serum PCT, dwell time of catheterization and outcome of the patients were collected. According to the diagnosis of CRBSI or not, they were divided into CRBSI group and no CRBSI group. We used receiver operating characteristic curve (ROC) to evaluate the value of serum PCT levels in predicting CRBSI in patients with clinically suspected CRBSI. Forty-five patients with suspected CRBSI were included in this study, and 13 patients were diagnosed with CRBSI. Comparing to those in no CRBSI group, the maximum body temperature (Tmax) (p = 0.036) and the PCT levels (P = 0.013) in CRBSI group were both significantly higher. The area under ROC of the serum PCT levels and the Tmax to predict the CRBSI were 0.803 (0.95CI,0.660–0.946) and 0.680 (0.95CI,0.529–0.832) respectively. The PCT cut-off value was 0.780 ng/ml, with the sensitivity 69.23%, specificity 87.50%, positive predictive values 69.23% and negative predictive values 87.50%. It could be helpful to adopt PCT as a rapid diagnostic biomarker for first-ever acute stroke patients with suspected CRBSI.

    更新日期:2020-01-07
  • Correlation between multiple cerebral aneurysms and a rare type of segmental duplication of the middle cerebral artery
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-04
    Nebojša N. Stojanović; Aleksandar Kostić; Radisav Mitić; Luka Berilažić

    Connection between the duplication of the middle cerebral artery (DMCA) and the presence of multiple aneurysms has been described in a small number of cases. The presence of a rare type of DMCA associated with cerebral aneurysms was diagnosed in 56 year old woman after a rupture of an aneurysm on the dorsal segment of the DMCA. .. The presence of equal diameters of branches of the DMCA and anterior cerebral artery (ACA) could be recorded as trifurcation of the carotid internal artery (ICA). However, due to the anastomosis of the DMCA branches in the area of the M2 segment, the recorded anatomical change represented a segmental duplication of MCA. Three aneurysms that were directly related to the segmental DMCA were diagnosed. Anatomical variation by type of segmental DMCA is a rare subtype of DMCA. The presence of multiple aneurysms associated with this type of anatomical variation in MCA indicates their high hemodynamic instability.

    更新日期:2020-01-04
  • Clinical characteristics and prognostic analysis of anti-gamma-aminobutyric acid-B (GABA-B) receptor encephalitis in Northeast China
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-03
    Xinyue Zhang; Yue Lang; Lichao Sun; Weiguanliu Zhang; Weihong Lin; Li Cui

    To investigate the clinical characteristics and prognosis of anti-gamma-aminobutyric acid-B (GABA-B) receptor encephalitis. This retrospective study enrolled nineteen patients with anti-GABA-B receptor encephalitis. Clinical manifestations, radiological and electroencephalogram features, treatment and outcomes were collected and analyzed. The neurological function was evaluated according to the modified Rankin Scale (mRS). There were eleven patients in the favorable-prognosis group (mRS ≤ 2) and eight patients in the poor-prognosis group (mRS > 2). In the favorable-prognosis group, clinical symptoms included memory deterioration (n = 10; 90.9%), epileptic seizures (n = 9; 81.8%), psychiatric disorders (n = 9; 81.8%), and conscious disturbance (n = 5; 45.5%); magnetic resonance imaging (MRI) indicated an involvement of the limbic system in three (27.3%) cases in this group. Lung cancer was detected in one patient (9.1%). After an average follow-up period of 11.7 months, four (36.4%) patients were cured, and seven (63.6%) patients showed significant improvements. In the poor-prognosis group, all patients presented with memory deterioration, epileptic seizures, psychiatric disorders, and conscious disturbance; five (62.5%) patients had convulsive status epilepticus, and five (62.5%) patients developed respiratory failure; MRI indicated an involvement of the limbic system in seven (87.5%) cases. Malignant tumors were detected in five (62.5%) patients. After an average follow-up period of 14.8 months, seven (87.5%) patients died and one (12.5%) patient remained dependent in daily life. The clinical manifestations of anti-GABA-B receptor encephalitis include epileptic seizures, cognitive impairment and psychiatric disorders. Patients with convulsive status epilepticus or respiratory failure have poor outcomes. In anti-GABA-B receptor encephalitis, limbic system involvement is associated with a poor prognosis in and radiological examinations can reflect disease progression. Early diagnosis and appropriate treatment should be highlighted.

    更新日期:2020-01-04
  • Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
    BMC Neurol. (IF 2.233) Pub Date : 2020-01-03
    Xueping Chen; Jiao Liu; Qian-Qian Wei; Ru Wei Ou; Bei Cao; Xiaoqin Yuan; Yanbing Hou; Lingyu Zhang; Huifang Shang

    Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families referred to our center with ARHSP in a Chinese population. Targeted next-generation sequencing was performed on the patients to identify disease-causing mutations. Variants were analyzed according to their predicted pathogenicity and their relevance to the clinical phenotypes. The segregation in the family members was validated by Sanger sequencing. A total of 12 mutations in SPG11 gene from 9 index cases were identified, including 6 frameshift mutations, 3 missense mutations, 1 nonsense mutation, 1 splicing mutation, and 1 intron deletion mutation. In 6 of these patients, the mutations were homozygous, and the other 3 patients carried two compound heterozygous mutations. Six mutations were novel; 2 were classified as pathogenic, 1 were considered as likely pathogenic, and the other 3 were variants of unknown significance. Additionally, 1 missense heterozygous variant we found was also carried by amyotrophic lateral sclerosis (ALS) patient. Clinically and electrophysiologically, some of our ARHSP patients partially shared various features of autosomal-recessive juvenile amyotrophic lateral sclerosis (ARJALS), including combination of both UMN and LMN degeneration. The results contribute to extending of the SPG11 gene mutation spectrum and emphasizing a putative link between ARHSP and ARJALS.

    更新日期:2020-01-04
  • Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-29
    Jeremias Motte; Anna Lena Fisse; Thomas Grüter; Ruth Schneider; Thomas Breuer; Thomas Lücke; Stefan Krueger; Huu Phuc Nguyen; Ralf Gold; Ilya Ayzenberg; Gisa Ellrichmann

    Hyperprolinemia type 2 (HPII) is a rare autosomal recessive disorder of the proline metabolism, that affects the ALDH4A1 gene. So far only four different pathogenic mutations are known. The manifestation is mostly in neonatal age, in early infancy or early childhood. The 64-years female patient had a long history of abdominal pain, and episode of an acute neuritis. Ten years later she was admitted into the neurological intensive-care-unit with acute abdominal pain, multiple generalized epileptic seizures, a vertical gaze palsy accompanied by extensive lactic acidosis in serum 26.0 mmol/l (reference: 0.55–2.2 mmol/l) and CSF 12.01 mmol/l (reference: 1.12–2.47 mmol/l). Due to repeated epileptic seizures and secondary complications a long-term sedation with a ventilation therapy over 20 days was administered. A diagnostic work-up revealed up to 400-times increased prolin-level in urine CSF and blood. Furthermore, a low vitamin-B6 serum value was found, consistent with a HPII causing secondary pyridoxine deficiency and seizures. The ALDH4A1 gene sequencing confirmed two previously unknown compound heterozygous variants (ALDH4A1 gene (NM_003748.3) Intron 1: c.62 + 1G > A - heterozygous and ALDH4A1 gene (NM_003748.3) Exon 5 c.349G > C, p.(Asp117His) - heterozygous). Under high-dose vitamin-B6 therapy no further seizures occurred. We describe two novel ALDH4A1-variants in an adult patient with hyperprolinemia type II causing secondary pyridoxine deficiency and seizures. Severe and potentially life-threatening course of this treatable disease emphasizes the importance of diagnostic vigilance and thorough laboratory work-up including gene analysis even in cases with atypical late manifestation.

    更新日期:2019-12-30
  • The association between high-sensitivity C-reactive protein at admission and progressive motor deficits in patients with penetrating artery infarctions
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-29
    Pengyu Gong; Yukai Liu; Ting Huang; Wenxiu Chen; Teng Jiang; Yachi Gong; Min Lu; Meng Wang; Yingdong Zhang; Xiaohao Zhang; Qiwen Deng; Junshan Zhou

    A fraction of patients with penetrating artery infarction (PAI) experience progressive motor deficit deterioration (PMD). We sought to investigate the role of high-sensitivity C-reactive protein (hs-CRP) at admission in predicting PMD. From January 2015 to September 2018, consecutive patients with PAI from three centers were prospectively enrolled in this study. PMD was defined as worsening of motor function score by ≥1 point on the National Institutes of Health Stroke Scale during the first 5 days after admission. Multivariable logistic regression analyses were performed to explore the relationship between hs-CRP and PMD in patients with PAI. We also performed receiver operating characteristic curve analysis and constructed a nomogram to assess the overall discriminative ability of hs-CRP in predicting PMD. We ultimately included 544 patients (mean age, 65.4 ± 11.8 years). A total of 85 (15.6%) patients were identified to have PMD. Multivariate logistic regression analysis showed that hs-CRP was independently associated with PMD (P = 0.001). The optimal cutoff value for hs-CRP as a predictor for PMD was 3.48 mg/L, with a sensitivity of 73.64% and a specificity of 82.35% (area under curve, 0.792). Moreover, the nomogram we constructed indicated that higher level of hs-CRP was an indicator of PMD (c-index = 0.780, P < 0.001). Our study suggested that hs-CRP might be a useful biomarker for predicting the risk of PMD in patients with PAI.

    更新日期:2019-12-30
  • A nomogram for predicting the in-hospital mortality after large hemispheric infarction
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-29
    Wenzhe Sun; Guo Li; Ziqiang Liu; Jinfeng Miao; Zhaoxia Yang; Qiao Zhou; Run Liu; Suiqiang Zhu; Zhou Zhu

    Large hemispheric infarction (LHI) is a severe form of stroke with high mortality and disability rates. The purpose of this study was to explore predictive indicators of the in-hospital mortality of LHI patients treated conservatively without decompressive hemicraniectomy. We performed a retrospective study of 187 consecutive patients with LHI between January 1, 2016 to May 31, 2019. The receiver operating curves were preformed to evaluate predictive performance of demographics factors, biomarkers and radiologic characteristics. Significant prognostic factors were combined to build a nomogram to predict the risk of in-hospital death of individual patients. One hundred fifty-eight patients with LHI were finally enrolled, 58 of which died. Through multivariate logistic regression analysis, we identified that independent prognostic factors for in-hospital death were age (adjusted odds ratio [aOR] = 1.066; 95% confidence interval [CI], 1.025–1.108; P = 0.001), midline shift (MLS, aOR = 1.330, 95% CI, 1.177–1.503; P < 0.001), and neutrophil-to-lymphocyte ratio (NLR, aOR = 3.319, 95% CI, 1.542–7.144; P = 0.002). NLR may serve as a better predictor than white blood count (WBC) and neutrophil counts. Lastly, we used all of the clinical characteristics to establish a nomogram for predicting the prognosis, area under the curve (AUC) of this nomogram was 0.858 (95% CI, 0.794–0.908). This study shows that age, MLS, and admission NLR value are independent predictors of in-hospital mortality in patients with LHI. Moreover, nomogram, serve as a precise and convenient tool for the prognosis of LHI patients.

    更新日期:2019-12-30
  • A rare but treatable cause of recurrent chest pain - Ictal chest pain
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-30
    Ching Soong Khoo; Dongah Lee; Kang Min Park; Byung In Lee; Sung Eun Kim

    Chest pain as the primary manifestation of epilepsy is extremely rare and has only been reported once to date. We herein describe a 47-year-old woman with recurrent chest pain for 3 years. The cause of her chest pain remained elusive despite extensive investigations including comprehensive cardiac work-up. She was referred to the neurology clinic for one episode of confusion. Video-electroencephalographic monitoring detected unequivocal ictal changes during her habitual chest pain events. She has remained chest pain (seizure) free with a single antiseizure drug. This case underlines the importance of epilepsy as a rare yet treatable cause of recurrent chest pain. Further studies are required to determine the pathophysiology of ictal chest pain.

    更新日期:2019-12-30
  • Ischemic stroke in Morocco: a systematic review
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-30
    Ahmed Kharbach; Majdouline Obtel; Laila Lahlou; Jehanne Aasfara; Nour Mekaoui; Rachid Razine

    The aim of this systematic review is to determine the epidemiological and etiological profiles, the influential factors of the prehospital delay, thrombolysis management, the acute and 3-month mortality rate and the genetic aspect of ischemic stroke in Morocco. The present work is a systematic review that was conducted according to the recommendations of the “Preferred reporting items for systematic reviews and meta-analysis”. We used Pubmed, Sciencedirect, Scopus, Clinicalkey, and Google scholar databases for the raking of the gray literature during the time frame 2009 and 2018. The protocol of the review was registered in the PROSPERO register (CRD42018115206). These studies were analyzed based on: Age, sex ratio, risk factors, etiological profile according to Trial of ORG classification 10,172 in Acute Stroke Treatment, prehospital delay average and its influential factors, thrombolyzed patients’ proportion, acute and 3-month mortality and the genetic factors of ischemic stroke in Morocco. Twenty-nine (n = 29) studies were selected. The average age ranged from 49 ± 15.2 to 67.3 ± 9.9 years old. Moreover, we reported male predominance within all ages in 13 studies. High blood pressure, diabetes, smoking and heart disease were the four identified main risk factors by the prementioned studies. Atherosclerosis and cardioembolic were the main described etiologies of cerebral ischemia, and the average prehospital time ranged from 26 to 61.9 h. The proportion of thrombolysed patients ranged from 1.8% to 2.9%, the mortality rate varied in the acute phase from 3 to 13%, and the 3-month mortality ranged from 4.3 to 32.5%. It is also important to highlight that most of these studies, which were conducted in hospital environment, have a reduced sample size and no confidence interval. Ischemic stroke is affecting more likely the young population with male predominance. Moreover, the long prehospital delay and the low proportion of thrombolysed patients are alarming. This indicates the need to investigate in depth the key factors influencing the access to care for Moroccan patients in order to improve the management of this neurologic deficit in Morocco.

    更新日期:2019-12-30
  • Functional MRI study in a case of Charles Bonnet syndrome related to LHON
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-30
    V. Vacchiano; C. Tonon; M. Mitolo; S. Evangelisti; M. Carbonelli; R. Liguori; R. Lodi; V. Carelli; C. La Morgia

    Charles Bonnet syndrome is characterized by simple or complex visual hallucinations (VH) due to damage along the visual pathways. We report a functional MRI study of brain correlates of VH in the context of a severe optic atrophy in a patient with Leber’s Hereditary Optic Neuropathy (LHON). A 62-year-old man was diagnosed with LHON (11778/ND4 mtDNA mutation) after subacute visual loss in left eye (right eye was amblyopic). One month later, he experienced VH of a few seconds consisting in “moving red and blue miniature cartoons”. One year later VH content changed in colored mosaic (10–15 s duration), usually stress-related, and blue and white flashes (2–5 s), triggered by unexpected auditory stimuli. Audiometry revealed mild sensorineural hearing loss. Three block design functional MRI paradigms were administrated: 1) random “clap”, 2) “checkerboard” and 3) non-random “beep”. After random “claps” simple flashes were evoked with bilateral activation of primary and secondary visual cortex, cuneus, precuneus and insula. Neither hallucinations nor cortex activation were registered after “checkerboard” stimulation, due to the severe visual impairment. Primary and secondary auditory cortices were “beep”-activated, without eliciting VH by non-random “beep”. The peculiarity of our case is that VH were triggered by random auditory stimuli, possibly due to a cross-modal plasticity between visual and auditory networks, likely influenced by the sensorineural deafness. Functional alterations of both networks in resting conditions have been demonstrated in LHON patients, even without an auditory deficit. Finally, the absence of VH triggered by expected stimuli is consistent with the “expectation suppression theory”, based on increased neural activations after unexpected but not by predicted events.

    更新日期:2019-12-30
  • Neuromyelitis optica spectrum disorder with massive basal ganglia involvement: a case report
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-30
    Shinji Ohara; Taka-aki Miyahira; Kenya Oguchi; Yo-ichi Takei; Fumihiro Yanagimura; Izumi Kawachi; Kiyomitsu Oyanagi; Akiyoshi Kakita

    Occurrence of basal ganglia involvement in neuromyelitis optica spectrum disorders (NMOSD) has rarely been reported and none documented pathologically. A 73-year-old female was clinically diagnosed with a NMOSD based on the clinical and radiological features and positive serum autoantibodies to AQP4. One month before her death, she became acutely ill with disturbed consciousness and right hemiparesis, and was diagnosed and treated as having basal ganglia infarction based on the brain CT. She made a partial recovery but later died from heart failure. At autopsy, the corresponding basal ganglia process revealed a large fresh area of necrosis. Histologically, several pathological signatures of NMOSD could be recognized in the lesion, including inflammatory cell infiltrations by B and T lymphocytes, perivascular complement and fibrinogen deposition, and the appearance of numerous phagocytosed corpora amylacea within the infiltrating macrophages. The present case illustrates that basal ganglia may be directly involved in the pathological processes of NMOSD, although the possibility of modification of the lesions by superimposed regional ischemia could not be excluded.

    更新日期:2019-12-30
  • Microvascular decompression for the treatment of neurogenic hypertension with trigeminal neuralgia
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-27
    Wenchao Lu; Hui Wang; Zhongnan Yan; Yuangang Wang; Hongmin Che

    To evaluate the efficacy of microvascular decompression (MVD) in reducing hypertension (HTN) in hypertensive patients with trigeminal neuralgia (TN). The clinical data of 58 cases of neurogenic HTN with TN treated in our hospital were retrospectively reviewed. Preoperative MR revealed abnormal blood pressure in the left rostral ventrolateral medulla (RVLM) and the posterior cranial nerve root entry zone (REZ). The patients were divided into control group: only trigeminal nerve was treated with MVD; experimental group: trigeminal nerve, RVLM and REZ were treated with MVD at the same time. The patients were followed up for 6 months to 1 year to observe the changes of blood pressure. There was no significant difference in gender, age, course of TN, course of HTN, grade of HTN and preoperative blood pressure between the two groups. After operation, the effective rate of HTN improvement with MVD was 32.1% in the control group. There was no significant difference in the preoperative and post operative blood pressure. (P△SBP = 0.131; P△BDP = 0.078). In the experimental group, the effective rate was 83.3%. The postoperative blood pressure was significantly lower than preoperative values. (P△SBP < 0.001; P△DBP < 0.001). MVD is an effective treatment for neurogenic HTN. However, the criteria for selecting hypertensive patients who need MVD to control their HTN still needs to be further determined. Possible indications may include: left trigeminal neuralgia, neurogenic HTN; abnormal blood pressure compression in the left RVLM and REZ areas on MR; and blood pressure in these patients can not be effectively controlled by drugs.

    更新日期:2019-12-27
  • The frequency and impact of admission hyperglycemia on short term outcome of acute stroke patients admitted to Tikur Anbessa Specialized hospital, Addis Ababa, Ethiopia: a cross-sectional study
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-27
    Yared Zenebe Zewde; Abenet Tafesse Mengesha; Yeweynhareg Feleke Gebreyes; Halvor Naess

    Admission hyperglycemia (HG) has been associated with worse outcomes among acute stroke patients. A better understanding and awareness of the potentially adverse influence of hyperglycemia on the clinical outcome of acute stroke patients would help to provide guidance for acute stroke management and prevention of its adverse outcomes. We aimed to assess the frequency of admission hyperglycemia and its impact on short term (30-days) morbidity and mortality outcomes of stroke in adult Ethiopian patients in an urban setting. A prospective, cross-sectional study was conducted among acute stroke patients admitted to Tikur Anbessa Specialized Hospital (TASH), within 72 h of symptom onset, from July to December 2016. Socio-demographic data, neuroimaging findings and capillary blood glucose values were obtained on admission. Hyperglycemia was defined as > 140 mg/dl. National Institute of Health Stroke Scale (NIHSS) and modified Rankin Scale (mRS) were used to assess the baseline stroke severity and the 30-days post-stroke outcome, respectively. A total of 103 first-ever acute stroke patients were included (mean age = 55.5 + 15.3 years, 64.1% male and 65% under the age of 65 years) and 51 (49.5%) were hyperglycemic at time of admission. The median admission NIHSS score was worse in the hyperglycemic patients 14 (IQR 10–19) compared to normoglycemic patients 11 (IQR 8–15). Among stroke survivors, patients with hyperglycemia were 3.83 times (95% CI, 1.99–6.19) more likely to be functionally impaired (mRS = 3–5) at 30-days compared to normoglycemic patients (P = 0.041).Older age (≥ 65 years) (P = 0.017) and stroke severity (NIHSS > 14) (P = 0.006) at admission were both significantly associated with poor functional recovery at 30-day. Among patients who died at 30-day, two-third (66.7%) were hyperglycemic but they failed to show any significant association. Hyperglycemia is prevalent among Ethiopian stroke patients at the time of presentation and it is associated with significantly poor functional recovery at 30th-day of follow up. This finding provides a rationale for achieving normal blood glucose in the course of acute stroke management which could have a favorable impact on the neurological outcome and quality of life for patients.

    更新日期:2019-12-27
  • Multimodal MRI of grey matter, white matter, and functional connectivity in cognitively healthy mutation carriers at risk for frontotemporal dementia and Alzheimer's disease
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-27
    Rogier A. Feis; Mark J. R. J. Bouts; Elise G. P. Dopper; Nicola Filippini; Verena Heise; Aaron J. Trachtenberg; John C. van Swieten; Mark A. van Buchem; Jeroen van der Grond; Clare E. Mackay; Serge A. R. B. Rombouts

    Frontotemporal dementia (FTD) and Alzheimer’s disease (AD) are associated with divergent differences in grey matter volume, white matter diffusion, and functional connectivity. However, it is unknown at what disease stage these differences emerge. Here, we investigate whether divergent differences in grey matter volume, white matter diffusion, and functional connectivity are already apparent between cognitively healthy carriers of pathogenic FTD mutations, and cognitively healthy carriers at increased AD risk. We acquired multimodal magnetic resonance imaging (MRI) brain scans in cognitively healthy subjects with (n=39) and without (n=36) microtubule-associated protein Tau (MAPT) or progranulin (GRN) mutations, and with (n=37) and without (n=38) apolipoprotein E ε4 (APOE4) allele. We evaluated grey matter volume using voxel-based morphometry, white matter diffusion using tract-based spatial statistics (TBSS), and region-to-network functional connectivity using dual regression in the default mode network and salience network. We tested for differences between the respective carriers and controls, as well as for divergence of those differences. For the divergence contrast, we additionally performed region-of-interest TBSS analyses in known areas of white matter diffusion differences between FTD and AD (i.e., uncinate fasciculus, forceps minor, and anterior thalamic radiation). MAPT/GRN carriers did not differ from controls in any modality. APOE4 carriers had lower fractional anisotropy than controls in the callosal splenium and right inferior fronto-occipital fasciculus, but did not show grey matter volume or functional connectivity differences. We found no divergent differences between both carrier-control contrasts in any modality, even in region-of-interest analyses. Concluding, we could not find differences suggestive of divergent pathways of underlying FTD and AD pathology in asymptomatic risk mutation carriers. Future studies should focus on asymptomatic mutation carriers that are closer to symptom onset to capture the first specific signs that may differentiate between FTD and AD.

    更新日期:2019-12-27
  • Action observation training for rehabilitation in brain injuries: a systematic review and meta-analysis
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-27
    Bianca Buchignani; Elena Beani; Valerie Pomeroy; Oriana Iacono; Elisa Sicola; Silvia Perazza; Eleonora Bieber; Hilde Feys; Katrijn Klingels; Giovanni Cioni; Giuseppina Sgandurra

    To systematically review and analyse the effects of Action Observation Training on adults and children with brain damage. Seven electronic databases (Cochrane, EBSCO, Embase, Eric, PubMed, Scopus and Web of Science) were searched up to 16 September 2018 to select Randomized Controlled Trials focused on adults and children with brain damage that included AOT training on upper and/or lower limb carried out for at least 1 week. Identification of studies and data extraction was conducted with two reviewers working independently. Oxford Centre for Evidence-based Medicine (March2009) – Levels of Evidence and Physiotherapy Evidence Database scale were used to grade studies. The data collected from the articles were analysed using software R, version 3.4.3. Hedge’s g values were calculated and effect size estimates were pooled across studies. Separate meta-analyses were carried out for each ICF domain (i.e. body function and activity) for upper and lower limb. Out of the 210 records identified after removing duplicates, 22 were selected for systematic review and 19 were included in the meta-analysis. Thirteen studies included in the meta-analysis focused on upper limb rehabilitation (4 in children and 9 in adults) and 6 on lower limb rehabilitation (only studies in adults). A total of 626 patients were included in the meta-analysis. An overall statistically significant effect size was found for upper limb body function (0.44, 95% CI: [0.24, 0.64], p < 0.001) and upper limb activity domain (0.47, 95% CI: [0.30, 0.64], p < 0.001). For lower limb, only the activity domain was analysed, revealing a statistically significant overall effect size (0.56, 95% CI: [0.28, 0.84], p < 0.001). Action Observation Training (AOT) is an innovative rehabilitation tool for individuals with brain damage, which shows promising results in improving the activity domain for upper and lower limbs, and also the body function domain for the upper limb. However, the examined studies lack uniformity and further well-designed, larger controlled trials are necessary to determine the most suitable type of AOT particularly in children. CRD42019119600.

    更新日期:2019-12-27
  • Discrepancy in the perception of symptoms of cognitive decline between older adults and their family members: results of the Toyama dementia survey
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-26
    Nobue Nakahori; Michikazu Sekine; Masaaki Yamada; Takashi Tatsuse; Hideki Kido; Michio Suzuki

    Early consultation is important to delay the onset of dementia. The present study aimed to explore the reasons for delaying a consultation of dementia while focusing on the differences in the perception of cognitive decline between older adults and their family members. A group of 663 older adults aged ≥65 years and living with family members in Toyama Prefecture was surveyed. The questionnaires included items that measured changes in cognitive function noticed by older adults and their family members, and the Revised Hasegawa Dementia Scale (HDS-R). The degrees of consistency on the perception of mental changes that accompanied cognitive decline were measured using the Kappa statistic. Both older adults and their family members were well aware of “forgetfulness” as a symptom of cognitive decline. Only the perception of “loss of appetite” at the late stage of cognitive decline was consistent between older adults and their family (κ = 0.707). When older adults often noticed their own forgetfulness, their mean HDS-R score was 22.7, whereas that of the family members was 14.7. The combinations of perception of forgetfulness by older adults and their family members, and the mean HDS-R scores were unaware/unaware (mean HDS-R score = 27.0), aware/unaware (mean HDS-R score = 24.9), aware/aware (mean HDS-R score = 15.5), and unaware/aware (mean HDS-R score = 13.0). There were discrepancies in the perception of cognitive decline between older adults and their family members. Cognitive decline had progressed by the time that family members had noticed the symptom of forgetfulness in their older adult relatives. The perception gap regarding cognitive decline deters consultation of dementia.

    更新日期:2019-12-27
  • Association between vitamin D receptor (VDR) polymorphisms and the risk of multiple sclerosis (MS): an updated meta-analysis
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-26
    Danyal Imani; Bahman Razi; Morteza Motallebnezhad; Ramazan Rezaei

    The association between the Vitamin D Receptor (VDR) gene polymorphism and the risk of Multiple sclerosis (MS) has been evaluated in several researches. However, the findings were inconsistent and inconclusive. Therefore, we set out a meta-analysis of all eligible published case-control studies to obtain an exact evaluation of the association between VDR gene polymorphisms and MS. All relevant studies reporting the association between the VDR gene FokI (rs2228570), or/and TaqI (rs731236) or/and BsmI (rs1544410) or/and ApaI (rs7975232) polymorphisms and susceptibility to MS published up to May, 2019 were identified by comprehensive systematic search in the electronic database of web of science, Scopus, and PubMed. After that, the strength of association between VDR gene polymorphisms and susceptibility to MS was evaluated by odds ratio (OR) and 95% confidence interval (CI). A total of 30 case–control studies were included in the meta-analysis. The overall results suggested a significant association between TaqI polymorphism and MS risk under heterozygote genetic model (OR = 1.27, 95%CI = 1.01–1.59, random effect). Moreover, the pooled results of subgroup analysis declined presence of significant association under all defined genetic model. In subgroup analysis, BsmI polymorphisms was associated with increased risk of MS under recessive model in Asian populations. On the other hand, ApaI polymorphism was associated with decreased risk of MS under recessive and aa vs. AA model in Asian populations. This meta-analysis suggested a significant association between TaqI polymorphism and MS susceptibility. Furthermore, BsmI polymorphism was associated with increased risk of MS in Asian populations. In contrast, ApaI polymorphism was associated with decreased risk of MS in Asian populations. Future large-scale studies on gene–environment and gene–gene interactions are required to estimate risk factors and assist early diagnosis of patients at high risk for MS.

    更新日期:2019-12-27
  • Cognitive mediated eye movements during the SDMT reveal the challenges with processing speed faced by people with MS
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-26
    Bennis Pavisian; Viral P. Patel; Anthony Feinstein

    The Symbol Digit Modalities Test (SDMT) is regarded as the cognitive test of choice for people with MS (pwMS). While deficits are linked to impaired processing speed, the mechanisms by which they arise are unclear. Cognitive-mediated eye movements offer one putative explanation. The objective of this study was to determine the association between eye movements and performance on the SDMT. Thirty-three people with confirmed MS and 25 matched healthy control subjects (HC) were administered the oral SDMT while eye movements were recorded. Mean SDMT scores were significantly lower in pwMS (p < 0.038). Shorter mean saccade distance in the key area (p = 0.007), more visits to the key area per response (p = 0.014), and more total number of fixations in the test area (p = 0.045) differentiated pwMS from HCs. A hierarchical regression analysis revealed that the number of visits to the key area per response (p < 0.001; ΔR2 = 0.549) and total number of fixations in the test area (p < 0.001; ΔR2 = 0.782) were the most robust predictors of SDMT scores. Cognitive-mediated eye movements help elucidate the processing speed challenges confronted by people with MS. Mechanistic insights such as these can potentially help inform new cognitive rehabilitation strategies.

    更新日期:2019-12-27
  • The eagle jugular syndrome
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-21
    Paolo Zamboni; Alba Scerrati; Erica Menegatti; Roberto Galeotti; Marcello Lapparelli; Luca Traina; Mirko Tessari; Andrea Ciorba; Pasquale De Bonis; Stefano Pelucchi

    The elongation of the styloid process is historically associated with two variants of the Eagle syndrome. The classic one, mainly characterized by pain and dysphagia, and the carotid variant characterized by pain and sometimes by cerebral ischemia. We observed a further variant characterized by a styloid elongation coursing adjacent to the transverse process of C1, causing significant compression of the internal jugular vein. We reviewed all the cases of Eagle syndrome, including the jugular variant, admitted in our Hospital in the last six years. We compared symptomatology, associated comorbidities and imaging. Data were statistically analyzed. Overall 23 patients were admitted to the Hospital for symptomatic elongation of the styloid process, 11 male and 12 females. The jugular variant of the Eagle syndrome is clinically delineated by significant differences, as compared to the classic variant and carotid variants. Headache was the more prominent symptom (p < .009) as well as a documented peri-mesencephalic hemorrhage was the more significant comorbidity (p < .0003). The group classic-carotid variant was characterized by ipsilateral pain respect to the jugular variant (p < .0003). CT angiography with venous phase extended to the neck veins and imaging reconstruction is highly recommended as imaging technique, complemented by color-Doppler ultrasound. The elongation of the styloid process may have different paths which creates compression on the surrounding anatomical structures. There may be a possible association of jugular impingement by an elongated styloid process with symptoms. Protocol n°45–2013.

    更新日期:2019-12-21
  • Chinese version of narcolepsy severity scale: a validation study
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-21
    Hui Ouyang; Fang Han; Qiwen Zheng; Jun Zhang

    The narcolepsy severity scale (NSS) was developed to measure the severity and consequences of symptoms in patients with narcolepsy. The scale has been validated in France, though no other studies have further validated this instrument. The current study aimed to present psychometric properties and describe the score distribution of the Chinese-NSS. One hundred twenty-two patients with narcolepsy (41 females and 81 males; mean age 26.14 ± 15.40 years) participated in the study. All patients completed the Chinese-NSS. Cronbach’s α, item-total score correlations, exploratory factor analysis (EFA), and correlations between NSS total scores and clinical or sleep parameters were then calculated. EFA yielded a three-factor model. Internal consistency was acceptable (Cronbach’sα = 0.799). The NSS total score had significant correlations with the Epworth sleepiness score (0.447), pediatric daytime sleepiness scale (0.318), the insomnia severity index (0.592), Beck depression inventory (0.593), EurQol five dimensions-utility (0.457), EurQol five dimensions -VAS (− 0.323), the sleep disturbance scale for children (0.440), the children depression inventory (0.553), and the pediatric quality of life inventory (0.555) total scores, demonstrating acceptable convergence as predicted. The current study is the first validation study of the narcolepsy severity scale in an Asian population. The findings validated the Chinese-narcolepsy severity scale in a Chinese population with acceptable psychometric properties. There are minor differences between our results and those of the original study due to cultural differences.

    更新日期:2019-12-21
  • Understanding side effects of therapy for myasthenia gravis and their impact on daily life
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-21
    Elizabeth Dansie Bacci; Karin S. Coyne; Jiat-Ling Poon; Linda Harris; Audra N. Boscoe

    Myasthenia gravis is a chronic, autoimmune, neuromuscular junction disorder characterized by skeletal muscle weakness. Current therapies for myasthenia gravis are associated with significant side effects. The objective of this study was to characterize the side effects, and associated health-related quality of life and treatment impacts, of traditional myasthenia gravis treatments. This study had two phases; a Phase 1 interview and a 2-part web-based survey in Phase 2 that included brainstorming (Step 1) and rating (Step 2) exercises using group concept mapping. In Phase 1, all 14 participants reported experiencing side effects from myasthenia gravis treatments which had significant impacts on daily life. In Phase 2, 246 participants contributed to Step 1; 158 returned for Step 2. The brainstorming exercise produced 874 statements about side effects and their impact, which were reduced to 35 side effects and 23 impact-on-daily life statements. When rating these statements on severity, frequency, and tolerability, blood clots, infections/decreased immunity, weight gain, and diarrhea were the least tolerable and most severely rated. The most frequent and severe impacts were sleep interference and reduced physical and social activities. Based on these findings, there appears to be a need for better and more tolerable treatments for myasthenia gravis patients.

    更新日期:2019-12-21
  • Correction to: Analysis of cardiac monitoring and safety data in patients initiating fingolimod treatment in the home or in clinic
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-21
    Brandon Brown; Jamie L. Weiss; Scott Kolodny; Xiangyi Meng; Ian M. Williams; John A. Osborne

    Following publication of the original article [1], the authors reported a mistake regarding the year found in the paragraph of the Background section.

    更新日期:2019-12-21
  • Clinical value of vestibular-evoked myogenic potential tests in patients with sudden sensorineural hearing loss
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-21
    Yuan Wang; Shun-Tong Gu; Xiao-Lin Bao; Jia-Liang Guo

    This study aims to investigate the clinical value of two kinds of vestibular-evoked myogenic potentials in patients with sudden sensorineural hearing loss (SSNHL). A total of 82 patients were divided into two groups: vertigo group and non-vertigo group. All patients underwent examinations for pure tone hearing thresholds, middle ear analysis, the videonystagmography, caloric tests, and vestibular-evoked myogenic potentials elicited from the sternocleidomastoid and extraocular muscle. In addition, 30 healthy subjects were selected as the control group. For the 30 healthy subjects, the average latency of p13 and n23 of the cervical vestibular evoked myogenic potentials (cVEMPs) were 13.13 ± 2.89 ms and 23.51 ± 3.25 ms, respectively, and the bilateral amplitude asymmetry rate ranged within 0.05–0.31. The average latency of n10 of the ocular vestibular evoked myogenic potentials (oVEMPs) was 10.13 ± 0.48 ms. The average amplitude of the n10-p15-wave was 5.58 ± 0.65 μV. Among the 35 vertigo patients with SSNHL, 27 patients had normal cVEMP and oVEMP examination results, five patients had abnormal oVEMP examination results, and five patients had abnormal cVEMP examination results. The latency and amplifier of oVEMPs and cVEMPs were within the normal range in 47 SSNHL patients without vertigo. The chi-square value was 5.647, the P-value was equal to 0.017, and the difference was statistically significant at a confidence interval of 95%. OVEMPs and cVEMPs can be used evaluate the vestibular nerve function of SSNHL patients with vertigo.

    更新日期:2019-12-21
  • Analysis of factors influencing hospital-acquired infection in postoperative patients with intracranial aneurysm
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-20
    Jun Wang; Yuanyuan Ji; Lidan Jiang; Xia Zhao; Shaochen Guan; Piao Yang; Jie Yu; Yunyun Liu; Hongqi Zhang

    Hospital-acquired infection (HAI) is a serious complication of neurosurgery. In recent years, the medical body has paid increasing attention to this issue. We investigated the status of HAIs in patients who had undergone surgery for intracranial aneurysms and analysed their risk factors. A retrospective analysis was carried out on the medical records of 542 patients with intracranial aneurysms after they were admitted for neurosurgery at Xuanwu Hospital of Capital Medical University between January and December 2016. Cases studied were divided into an infection group and a control group. Logistic regression analysis of the data was carried out. Of the 542 patients with intracranial aneurysms who underwent surgery, 77 HAIs occurred in 64 patients, with an infection prevalence of 11.8% and prevalence of infection cases of 14.2%. Logistic regression showed that an admission Glasgow Coma Scale (GCS) score of less than 8 points (odds ratio = 4.261, 95% confidence interval 1.102–16.476), hyperglycaemia (2.759, 1.159–6.564), hypothermia treatment (6.557, 2.244–19.159), and central venous catheterisation (CVC) (8.853, 2.860–27.398) were independent risk factors for HAIs in patients with intracranial aneurysm who underwent surgery. Being comatose upon hospital admission, having hyperglycaemia or hypothermia, and indwelling CVC are major risk factors for HAIs in patients undergoing surgery for intracranial aneurysms.

    更新日期:2019-12-20
  • Evaluating the cerebrospinal fluid ctDNA detection by next-generation sequencing in the diagnosis of meningeal Carcinomatosis
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-19
    Yue Zhao; Jun-Ying He; Yue-Li Zou; Xiao-Su Guo; Jun-Zhao Cui; Li Guo; Hui Bu

    Meningeal carcinomatosis (MC) is the most severe form of brain metastasis and causes significant morbidity and mortality. Currently, the diagnosis of MC is routinely confirmed on the basis of clinical manifestation, positive cerebrospinal fluid (CSF) cytology, and/or neuroimaging features. However, negative rate of CSF cytology and neuroimaging findings often result in a failure to diagnose MC from the patients who actually have the disease. Here we evaluate the CSF circulating tumor DNA (ctDNA) in the diagnosis of MC. A total of 35 CSF samples were collected from 35 patients with MC for CSF cytology examination, CSF ctDNA extraction and cancer-associated gene mutations detection by next-generation sequencing (NGS) at the same time. The most frequent primary tumor in this study was lung cancer (26/35, 74%), followed by gastric cancer (2/35, 6%), breast cancer (2/35, 6%), prostatic cancer (1/35, 3%), parotid gland carcinoma (1/35, 3%) and lymphoma (1/35, 3%) while no primary tumor could be found in the remaining 2 patients in spite of using various inspection methods. Twenty-five CSF samples (25/35; 71%) were found neoplastic cells in CSF cytology examination while all of the 35 CSF samples (35/35; 100%) were revealed having detectable ctDNA in which cancer-associated gene mutations were detected. All of 35 patients with MC in the study underwent contrast-enhanced brain MRI and/or CT and 22 neuroimaging features (22/35; 63%) were consistent with MC. The sensitivity of the neuroimaging was 88% (95% confidence intervals [95% CI], 75 to 100) (p = 22/25) and 63% (95% CI, 47 to 79) (p = 22/35) compared to those of CSF cytology and CSF ctDNA, respectively. The sensitivity of the CSF cytology was 71% (95% CI, 56 to 86) (n = 25/35) compared to that of CSF ctDNA. This study suggests a higher sensitivity of CSF ctDNA than those of CSF cytology and neuroimaging findings. We find cancer-associated gene mutations in ctDNA from CSF of patients with MC at 100% of our cohort, and utilizing CSF ctDNA as liquid biopsy technology based on the detection of cancer-associated gene mutations may give additional information to diagnose MC with negative CSF cytology and/or negative neuroimaging findings.

    更新日期:2019-12-19
  • Free thyroxine level is associated with both relapse rate and poor neurofunction in first-attack Neuromyelitis Optica Spectrum Disorder (NMOSD) patients
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-18
    Qianyi He; Lifeng Li; Yanfei Li; Yanhui Lu; Kaimin Wu; Ruiyi Zhang; Junfang Teng; Jie Zhao; Yanjie Jia

    To investigate whether the serum free thyroxine (FT4) level is a prognostic factor for the first-attack neuromyelitis optica spectrum disorders (NMOSD). This retrospective study enrolled 109 patients with first-attack NMOSD. The Expanded Disability Status Scale (EDSS) and the relapse rate were used to evaluate the outcomes. The logistic regression model was used to analyze the independent effects of FT4 on relapse and final EDSS. Kaplan-Meier analysis, scatter plot smoothing method, and two-phase piecewise linear regression model were used to investigate the relationship between the FT4 level and the relapse rate. Multivariate analysis revealed that serum FT4 level might be a risk factor for both final EDSS (β = 0.17; 95% confidence interval: 0.03–0.32) and the relapse rate (HR = 1.18; 95% confidence interval: 1.05–1.32). Furthermore, 1400 days after the onset, nearly 100% of patients in the high-FT4 group relapsed, while only 40% of the patients in the low-FT4 group relapsed. Finally, we found that the relationship between the FT4 level and the NMOSD relapse rate was nonlinear. The risk of NMOSD relapse increased with the FT4 level up to the inflection point of 12.01 pmol/L (HR = 1.45; 95% confidence interval: 1.06–1.98). When the FT4 level was > 12.01 pmol/L, there was no correlation between the FT4 level and the risk of NMOSD relapse (HR = 1.05; 95% confidence interval: 0.78–1.41). Serum FT4 level may be a prognostic indicator for the first-attack in patients with NMOSD. High FT4 levels are associated with poor neurofunctions and a high relapse rate in patients with the first-attack in patients with NMOSD.

    更新日期:2019-12-19
  • Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-18
    Wei Chen; Youqiao Zhang; Yifeng Ni; Shaoyu Cai; Xin Zheng; Frank L. Mastaglia; Jingshan Wu

    Multiple acyl-CoA dehydrogenase deficiency (MADD) is a riboflavin-responsive lipid-storage myopathy caused by mutations in the EFTA, EFTB or ETFDH genes. We report a Chinese family of Southern Min origin with two affected siblings with late-onset riboflavin-responsive MADD due to a homozygous c.250G > A EFTDH mutation and review the genetic epidemiology of the c.250G > A mutation. Both siblings presented with exercise-induced myalgia, progressive proximal muscle weakness and high levels of serum muscle enzymes and were initially diagnosed as polymyositis after a muscle biopsy. A repeat biopsy in one sibling subsequently showed features of lipid storage myopathy and genetic analysis identified a homozygous mutation (c.250G > A) in the ETFDH gene in both siblings and carriage of the same mutation by both parents. Glucocorticoid therapy led to improvement in muscle enzyme levels, but little change in muscle symptoms, and only after treatment with riboflavin was there marked improvement in exercise tolerance and muscle strength. The frequency and geographic distribution of the c.250G > A mutation were determined from a literature search for all previously reported cases of MADD with documented mutations. Our study found the c.250G > A mutation is the most common EFTDH mutation in riboflavin-responsive MADD (RR-MADD) and is most prevalent in China and South-East Asia where its epidemiology correlates with the distribution and migration patterns of the southern Min population in Southern China and neighbouring countries. Mutations in ETFDH should be screened for in individuals with lipid-storage myopathy to identify patients who are responsive to riboflavin. The c.250G > A mutation should be suspected particularly in individuals of southern Min Chinese background.

    更新日期:2019-12-19
  • Retraction Note: Risk factors, clinical presentations and predictors of stroke among adult patients admitted to stroke unit of Jimma university medical center, south west Ethiopia: prospective observational study
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-17
    Ginenus Fekadu; Legese Chelkeba; Ayantu Kebede

    The Editor and Publisher have retracted this article [1]. This article was published as the result of a technical error which resulted in two versions [1, 2] of the same article being published. [2] is the final version of the article. Springer Nature apologises to the authors and to readers for the inconvenience caused. All authors agree with this retraction.

    更新日期:2019-12-18
  • Clinical, neuroimaging, and nerve conduction characteristics of spontaneous Conus Medullaris infarction
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-17
    Yi-Ching Weng; Shy-Chyi Chin; Yah-Yuan Wu; Hung-Chou Kuo

    Spontaneous conus medullaris infarction is a rare disease. We describe two patients with spontaneous conus medullaris infarction presenting as acute cauda equina syndrome and their unique electromyography (EMG) findings. Two patients developed acute low back pain with mild asymmetric paraparesis, loss of perianal sensation and sphincter dysfunction. Ankle deep tendon reflexes were reduced in bilaterally. Neither patient had cardiovascular risk factors. Magnetic Resonance imaging showed infarction in the conus medullaris. Functional recovery was good in both patients, but progressive asymmetric calf wasting and sphincter dysfunction remained. EMG studies at follow-up of at least 3 years demonstrate active denervation at the muscles innervated by the first sacrum anterior horn cells. Spontaneous conus medullaris infarction can occur in healthy individuals and presents as cauda equina syndrome. Findings of needle EMG studies indicate a progressive course of sacrum anterior horn cell disorder during long-term follow-up.

    更新日期:2019-12-18
  • Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-14
    Aleksandra Klimkowicz-Mrowiec; Anna Dziubek; Malgorzata Sado; Marek Karpiński; Agnieszka Gorzkowska

    Hereditary spastic paraplegia is a large group of degenerative, neurological disorders characterized by progressive lower limb spasticity and weakness. The disease was investigated precisely but still clinicians often make incorrect or late diagnosis. Our aim was to investigate the genetic background and clinical phenotype of spastic paraplegia in large Polish family. A 37 years old woman presented with 4-year history of walking difficulties. On neurological examination, she had signs of upper motor lesion in lower extremities. She denied sphincter dysfunction and her cognition was normal. Her family history was positive for individuals with gait problems. The initial diagnosis was familial spastic paraplegia. Genetic testing identified a novel mutation in SPAST gene. All available family members were examined and had genetic testing. The same mutation in SPAST gene was identified in other affected family members. All patients caring the mutation presented with different phenotypes. This study presents a family with spastic paraplegia due to a novel mutation c.1390G›T(p.Glu464Term) in SPAST gene. Affected individuals showed a range of phenotypes that varied in their severity. This case report demonstrates, the signs of hereditary spastic paraplegia can be often misdiagnosed with other diseases. Therefore genetic testing should always be considered in patients with lower limb spasticity and positive family history in order to help to establish the correct diagnosis.

    更新日期:2019-12-17
  • An investigation of oxidant/antioxidant balance in patients with migraine: a case-control study
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-14
    Mansoureh Togha; Soodeh Razeghi Jahromi; Zeinab Ghorbani; Amir Ghaemi; Pegah Rafiee

    In recent years, the role of neuroinflammation and oxidative stress in migraine pathogenesis has achieved considerable interest; however, to date findings are equivocal. Thus, the objective of this study was to investigate biomarkers of oxidative stress in episodic and chronic migraineurs (EM and CM patients) and controls. Forty-four patients with EM, 27 individuals with CM and 19 age-sex-matched controls were enrolled. After collecting data on demographic and headache characteristics, blood samples were collected and analyzed to detect serum levels of oxidative stress biomarkers (malondialdehyde (MDA) and nitric oxide (NO)); total antioxidant capacity using Trolox equivalent antioxidant capacity (TEAC) assay; and antioxidant enzymes (catalase (CAT), superoxide dismutase (SOD), and glutathione peroxidase-1 (GPx-1)). Serum levels of CAT and SOD were significantly lower in the CM group than the EM group and controls. However, serum GPx-1 levels of the CM patients were slightly higher than the EM patients and controls (P-value≤0.001). CM patients had lower mean TEAC values than EM patients and controls. In addition, serum levels of NO and MDA were significantly elevated among subjects with CM compared to EM and control individuals (P-value≤0.001). Pearson correlation analysis revealed negative correlations between the number of days of having headaches per month and serum concentrations of the two antioxidant enzymes CAT (r = − 0.60, P-value< 0.001) and SOD (r = − 0.50, P-value< 0.001) as well as TEAC values (r = − 0.61, P-value< 0.001); however, there were positive correlations between headache days and serum GPx-1 levels (r = 0.46, P-value< 0.001), NO (r = 0.62, P-value< 0.001), and MDA (r = 0.64, P-value< 0.001). Present findings highlighted that chronic migraineurs had lower total non-enzymatic antioxidant capacity and higher oxidative stress than episodic migraineurs and control individuals. Although more studies are needed to confirm these data, applying novel prophylactic medications or dietary supplements with antioxidant properties could be promising in migraine therapy.

    更新日期:2019-12-17
  • Recent transition of medical cost and relapse rate of multiple sclerosis in Japan based on analysis of a health insurance claims database
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-16
    Izumi Kawachi; Shuichi Okamoto; Mariko Sakamoto; Hiroyuki Ohta; Yusuke Nakamura; Kosuke Iwasaki; Manami Yoshida; Shinzo Hiroi; Mieko Ogino

    In this study, we aimed to understand the trends in total and itemized medical expenses, especially of disease-modifying therapy (DMT), for multiple sclerosis (MS) in Japan through an analysis of health insurance claims data. We analyzed a database containing health insurance claims data from hospitals that have adopted the Diagnosis Procedure Combination/Per-Diem Payment System in Japan. According to an algorithm based on diagnosis codes, data for all patients diagnosed with MS from April 2008 to July 2016 were extracted. Medical costs, rate of each medical treatment, and rate of relapses were analyzed by calendar-year. Medical costs in the month of relapse were compared with average medical costs per month of all MS patients by a cross-sectional analysis. Four thousand three hundred seventy-four MS patients were identified in the database. Total medical cost per patient per month (PPPM) increased from ¥87,640 (US$787.7 or €723.0 as of May 2017) to ¥102,846 (US$924.4 or €848.4) during the study period. This increment was mainly attributed to the growth in cost of outpatient DMT prescriptions, which increased from ¥23,039 (US$207.1 or €190.1) to ¥51,351 (US$461.5 or €423.6). In contrast, the rate of hospitalizations and relapses PPPM decreased during the study period (from 0.053 to 0.030, and 0.032 to 0.019, respectively). Medical costs in the month of relapse (¥424,661, US$3816.8 or €3503.1) were 3.57 times higher than the average monthly costs for all MS patients (¥119,021, US$1069.8 or €981.8), with the majority comprising hospitalization cost. Concomitant with the increased usage of DMT, the total medical cost for treating MS is increasing in Japan. However, rates of relapse and hospitalization have shown a decreasing trend. Although this study does not show the direct causality between DMT and reduction of relapse rates/fewer hospitalizations among MS patients, a reduction in hospital costs has been revealed concomitantly with the increasing prevalence of DMT.

    更新日期:2019-12-17
  • Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-16
    Youlong Liang; Jingli Liu; Daobin Cheng; Yu Wu; Liuhong Mo; Wen Huang

    The X-linked form of Charcot-Marie-Tooth disease type 1 (CMTX1) is an inherited peripheral neuropathy that arises in patients with mutations in the gap-junction beta-1 gene (GJB1). Three young male patients from Southern China with pes cavus experienced multiple episodes of transient central nervous system (CNS) dysfunction. Three patients all had reversible posterior leukoencephalopathy as detected by brain diffusion-weighted magnetic resonance imaging (MRI-DWI). Nerve conduction velocity (NCV) showed sensorimotor polyneuropathy with mixed demyelinating and axonal features. Genetic testing indicated a c.425G > A (p.Arg142Glu) or c.563 C > T (p.Thr188Ile) or c.103G > C (p.Val35Leu) mutation in GJB1. The unique feature of this report is the identification of two novel mutations: c.563 C > T and sc.103G > C of the GJB1 gene detected in two families respectively. Another unique feature is that peripheral neuropathy symptoms in the three patients were insidious and found at the onset of CNS symptoms. Posterior leukoencephalopathy is involved in CMTX1 patients. The white matter changes in MRI of CMTX1 patients are reversible and recover later than CNS symptoms.

    更新日期:2019-12-17
  • The effects of repetitive transcranial magnetic stimulation in older adults with mild cognitive impairment: a protocol for a randomized, controlled three-arm trial
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-16
    Joy L. Taylor; Benjamin C. Hambro; Nicole D. Strossman; Priyanka Bhatt; Beatriz Hernandez; J. Wesson Ashford; Jauhtai Joseph Cheng; Michael Iv; Maheen M. Adamson; Laura C. Lazzeroni; Margaret Windy McNerney

    Mild Cognitive Impairment (MCI) carries a high risk of progression to Alzheimer’s disease (AD) dementia. Previous clinical trials testing whether cholinesterase inhibitors can slow the rate of progression from MCI to AD dementia have yielded disappointing results. However, recent studies of the effects of repetitive transcranial magnetic stimulation (rTMS) in AD have demonstrated improvements in cognitive function. Because few rTMS trials have been conducted in MCI, we designed a trial to test the short-term efficacy of rTMS in MCI. Yet, in both MCI and AD, we know little about what site of stimulation would be ideal for improving cognitive function. Therefore, two cortical sites will be investigated in this trial: (1) the dorsolateral prefrontal cortex (DLPFC), which has been well studied for treatment of major depressive disorder; and (2) the lateral parietal cortex (LPC), a novel site with connectivity to AD-relevant limbic regions. In this single-site trial, we plan to enroll 99 participants with single or multi-domain amnestic MCI. We will randomize participants to one of three groups: (1) Active DLPFC rTMS; (2) Active LPC rTMS; and (3) Sham rTMS (evenly split between DLPFC and LPC locations). After completing 20 bilateral rTMS treatment sessions, participants will be followed for 6 months to test short-term efficacy and track durability of effects. The primary efficacy measure is the California Verbal Learning Test-II (CVLT-II), assessed 1 week after intervention. Secondary analyses will examine effects of rTMS on other cognitive measures, symptoms of depression, and brain function with respect to the site of stimulation. Finally, selected biomarkers will be analyzed to explore predictors of response and mechanisms of action. The primary aim of this trial is to test the short-term efficacy of rTMS in MCI. Additionally, the project will provide information on the durability of cognitive effects and potentially distinct effects of stimulating DLPFC versus LPC regions. Future efforts would be directed toward better understanding therapeutic mechanisms and optimizing rTMS for treatment of MCI. Ultimately, if rTMS can be utilized to slow the rate of progression to AD dementia, this will be a significant advancement in the field. Clinical Trials NCT03331796. Registered 6 November 2017, https://clinicaltrials.gov/ct2/show/NCT03331796. All items from the World Health Organization Trial Registration Data Set are listed in Appendix A. This report is based on version 1, approved by the DSMB on 30 November, 2017 and amended on 14 August, 2018 and 19 September, 2019.

    更新日期:2019-12-17
  • Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis
    BMC Neurol. (IF 2.233) Pub Date : 2019-12-12
    Ya-Ni Zhang; Yuan-Yuan Gao; Si-Da Yang; Bin-Bin Cao; Ke-Lu Zheng; Ping Wei; Lian-Feng Chen; Wen-Xiong Chen

    X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton’s tyrosine kinase (BTK), which may cause serious recurrent infections. The diagnosis of XLA is sometimes challenging because a few number of patients have higher levels of serum immunoglobulins than expected. In this study, we reported an atypical case with recurrent meningitis, delayed diagnosis with XLA by genetic analysis at the second episode of meningitis at the age of 8 years. An 8-year-old Chinese boy presented with fever, dizziness and recurrent vomiting for 3 days. The cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI) results were suggestive of bacterial meningoencephalitis, despite the negative gram staining and cultures of the CSF. The patient was treated with broad-spectrum antibiotics and responded well to the treatment. He had history of another episode of acute pneumococci meningitis 4 years before. The respective level of Immunoglobulin G (IgG), Immunoglobulin A (IgA) and Immunoglobulin M (IgM) was 4.85 g/L, 0.93 g/L and 0.1 g/L at 1st episode, whereas 1.9 g/L, 0.27 g/L and 0 g/L at second episode. The B lymphocytes were 0.21 and 0.06% of peripheral blood lymphocytes at first and second episode respectively. Sequencing of the BTK coding regions showed that the patient had a point mutation in the intron 14, hemizyous c.1349 + 5G > A, while his mother had a heterozygous mutation. It was a splice site mutation predicted to lead to exon skipping and cause a truncated BTK protein. Immunity function should be routinely checked in patients with severe intracranial bacterial infection. Absence of B cells even with normal level of serum immunoglobulin suggests the possibility of XLA, although this happens only in rare instances. Mutational analysis of BTK gene is crucial for accurate diagnosis to atypical patients with XLA.

    更新日期:2019-12-13
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