Journal of Central Nervous System Disease最新文献

Background: Fingolimod, an oral drug used in multiple sclerosis (MS) treatment, exerts its action through S1P-receptor engagement. These receptors are also expressed in heart and endothelial cells. The engagement of receptors on the atrial heart myocytes may cause a slowing effect on heart rate (HR). We aimed to explore the acute effect of fingolimod on the cardiac autonomic control, a side-effect of the drug that still needs to be clarified.

Methods: In 10 MS patients, we investigated the influence of the first administration of fingolimod (0.5 mg) on sympathetic and parasympathetic indexes via the analysis of the HR variability, and on the baroreflex sensitivity via sequence and alpha coefficient techniques.

Results: Fingolimod produced an average HR maximal drop of 12.7 (7.8) beats/min and the minimal HR occurred after 2.73 (0.38) hours from the dose administration. The pulse interval (PI) mean value and the pNN50 and RMSSD indexes of parasympathetic drive to the heart significantly increased. Interestingly, in 6 out of 10 patients also the power in the low-frequency band (LF) increased. The baroreflex sensitivity was not modified by the first dose of the drug.

Conclusions: Our findings indicate that although the first dose of fingolimod invariably activates the parasympathetic system, in several subjects, it may induce also a surge in the sympathetic cardiac drive. This suggests that not only the vagal, as usually assumed, but also the sympathetic autonomic branch should be considered in the risk profile assessment of MS patients starting treatment with fingolimod.

The voltage-gated sodium channel neuronal type 2 alpha subunit (Na_vα1.2) encoded by the SCN2A gene causes early infantile epileptic encephalopathy (EIEE) inherited in an autosomal dominant manner. Clinically, it has variable presentations, ranging from benign familial infantile seizures (BFIS) to severe EIEE. Diagnosis is achieved through molecular DNA testing of the SCN2A gene. Herein, we report on a 30-month-old Saudi girl who presented on the fourth day of life with EIEE, normal brain magnetic resonance imaging (MRI), normal electroencephalography (EEG), and well-controlled seizures. Genetic investigation revealed a novel homozygous missense mutation (c.5242A > G; p.Asn1748Asp) in the SCN2A gene (NM_001040142.1). This is the first reported autosomal recessive inheritance of a disease allele in the SCN2A and therefore expands the molecular and inheritance spectrum of the SCN2A gene defects.

Objectives: This study aimed to explore the quality of life and well-being of care home residents living with advanced dementia, how personalised care can be achieved where the person is completely dependent on others for care and how individuals' choices and human rights were upheld.

Methods: The study design used a qualitative approach, with data collected through in-depth, semi-structured interviews with 8 family members, all of whom visited daily, and 8 care staff.

Results: Emerging themes highlighted the importance of family involvement, signs of well-being, communication and the valued role of direct care staff.

Discussion: Participants were able to identify factors of residents' well-being in residents living with advanced dementia. Family members who visited daily saw themselves working collaboratively with care staff to maintain the quality of life of their relatives and engage in proxy decision making. Regarding human rights, the emphasis was on avoiding abuse, rather than promoting well-being.

Background and purpose: Meningioma is a common type of benign tumor that can be managed in several ways, ranging from close observation, surgical resection, and various types of radiation. We present here results from a 10-year experience treating meningiomas with a hypofractionated approach.

Materials and methods: We reviewed the charts of 56 patients treated with stereotactic radiosurgery (SRS) or hypofractionated stereotactic radiotherapy (SRT) from 2008 to 2017. A total of 46 (82%) patients had WHO Grade 1 disease and 10 (18%) had Grade 2. Outcomes that were analyzed included local control rates and the rate and grade of any reported toxicity.

Results: A total of 38 women and 18 men underwent SRS to a median dose of 15 Gy (n = 24) or hypofractionated SRT with a median dose of 25 Gy in five fractions (n = 34). Of the 56 patients, 22 had surgery before receiving treatment. The median follow-up was 36 (6-110) months. Local control at 2 and 5 years for all patients was 90% and 88%, respectively. Comparing fractionated to single-fraction treatment, there was improved local control with fractionation (91% vs 80% local control at 2 years, P = .009). There was one episode of late radionecrosis on imaging with associated symptoms after single-fraction treatment and one patient requiring resection of meningioma related to worsening symptoms (and local recurrence) after five-fraction SRT.

Conclusions: This study provides further evidence for high rates of local control and minimal toxicity using a hypofractionated SRT approach, with improvement in local control through use of hypofractionation.

Background: Aerobic exercise is an effective treatment to improve aerobic capacity following stroke and might also improve cognitive impairments in sub-acute stroke survivors. The aim of the study was to assess the effect of high-intensity aerobic exercise on cognitive impairments in sub-acute stroke survivors.

Methods: A pilot, randomised controlled trial on the effects of aerobic exercise on cognitive impairments of stroke patients in the sub-acute (1-3 months) phase was conducted. Thirty patients with moderate cognitive impairments (maximum score of 5 on at least two items on the cognitive subscales of the Functional Independence Measure [FIM]) were included in the study and randomly assigned to either the intervention group - performing high-intensity aerobic exercise (above 70% of maximum heart rate), or the control group - performing low-intensity aerobic exercise (below 60%). Patients in both groups exercised for 50 min twice a week for 4 weeks. Primary neuropsychological outcome: Trail Making Test B.

Results: Thirty stroke patients completed the interventions. The results showed that the high-intensity group, compared with the low-intensity group, achieved significant improvements on Trail Making Test B, which assesses processing speed and divided attention (P = .04 after training and P = .01 at follow-up). However, the significant improvements on Trail Making Test B might relate to a ceiling effect in the control group.

Conclusions: This study does not provide evidence to support that aerobic exercise can improve cognition in stroke survivors, even though significant improvement was revealed on the primary outcome in sub-acute stroke survivors following high-intensity aerobic exercise compared with low-intensity general exercise.

Background: Clinical diagnosis of cognitive disorders depends on accurate reporting of medical history, yet little is known about the reliability and the validity of such reports, particularly in older patients with and without cognitive impairment.

Methods: In 2 studies, we examined the reliability and the validity of reported histories of select medical events in adults with and without cognitive impairment from a large national cohort.

Results: Information from subjects (N₁ = 3664), obtained from 2 time points, 6 to 12  months apart, was consistent across most medical events, regardless of the diagnostic group (range = 97.6%-100% agreement; Cohen κ range = 0.712-0.945), with few exceptions. Validity analyses (N₂ = 382) revealed that 3 of 5 medical events assessed showed substantial agreement between self-report information and clinician diagnosis.

Conclusions: These data represent some of the first to demonstrate the reliability and the validity of reported select medical events in older adults with and without cognitive impairment.

Late recovery of consciousness in vegetative state is considered as an exceptional outcome and has been reported prevalently in patients who suffered a traumatic brain injury. In these patients, the benefits of prolonging the rehabilitation, aimed at the recovery of autonomy in basic everyday activities, has been demonstrated. Here, we describe the application of an intensive multi-professional rehabilitation program carried out on a young female patient, with exceptionally late recovery of consciousness, specifically, after 7 years of vegetative state due to severe brain hemorrhage. Neuropsychological and functional assessment was conducted before and after the end of the rehabilitation program. In addition, functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI)-based probabilistic tractography were performed. Two follow-up neuropsychological and functional assessments were also conducted 6 and 29 months after the conclusion of the program. Functional results showed an improvement, maintained over time, in walking with assistance, cognitive efficiency, visual acuity and visual field, dysarthria, and execution of activities of daily living. Moreover, functional and structural magnetic resonance imaging (MRI) data documented the existence of preserved neural networks involved in sensory, motor, and linguistic tasks, which in all likelihood support the recovery process. This report suggests the possibility of undertaking an intensive rehabilitation program in patients who remain for long periods in altered states of consciousness, in spite of early negative prognosis.

Introduction: Activity-based therapy (ABT) aims to activate the neuromuscular system below the level of the spinal cord lesion and promote recovery of motor tasks through spinal reorganisation, motor learning and changes to muscles and sensory system. We investigated the effects of a multimodal ABT program on mobility, independence and sitting balance in individuals with spinal cord injury (SCI).

Methods: Retrospective clinical data from 91 adults who independently enrolled in four community-based ABT centres in Australia were analysed. The multimodal ABT program was delivered for 3 to 12 months, one to four times per week. Assessments were undertaken every 3 months and included the Modified Rivermead Mobility Index (MRMI), Spinal Cord Independence Measure (SCIM) and seated reach distance (SRD). A linear mixed model analysis was used to determine time-based and other predictors of change.

Results: There was a significant improvement after 12 months for all outcome measures, with a mean change score of 4 points in the SCIM (95% confidence interval [CI]: 2.7-5.3, d = 0.19), 2 points in the MRMI (95% CI: 1-2.3, d = 0.19) and 0.2 in the SRD (95% CI: 0.1-2.2, d = 0.52). Greater improvements occurred in the first 3 months of intervention. There were no interaction effects between time and the neurological level of injury, American Spinal Injury Association Impairment Scale classification, or duration post-injury for most outcomes.

Conclusions: A community-based ABT exercise program for people with SCI can lead to small improvements in mobility, independence and balance in sitting, with greater improvements occurring early during intervention.