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1.
Background
Several studies indicated that multiple sclerosis (MS) is frequently associated with other autoimmune diseases. However, it is little known if the coexistence of these conditions may influence the radiologic features of MS, and in particular the brain volumes.Objectives
To evaluate the effect of autoimmune comorbidities on brain atrophy in a large case–control MS population.Methods
A group of MS patients affected by a second autoimmune disorder, and a control MS group without any comorbidity, were recruited. Patients underwent a brain MRI and volumes of whole brain (WB), white matter (WM), and gray matter (GM) with cortical GM were estimated by SIENAX.Results
The sample included 286 MS patients, of which 30 (10.5%) subjects with type 1 diabetes (T1D), 53 (18.5%) with autoimmune thyroiditis (AT) and 4 (0.1%) with celiac disease. Multiple regression analysis found an association between T1D and lower GM (p?=?0.038) and cortical GM (p?=?0.036) volumes, independent from MS clinical features and related to T1D duration (p?<?0.01), while no association was observed with AT and celiac disease.Conclusions
Our data support the importance of considering T1D as possible factors influencing the brain atrophy in MS. Further studies are needed to confirm our data and to clarify the underlying mechanisms.2.
Objective
To examine the effect of individual cerebral small vessel disease (CSVD) markers and cumulative CSVD burden on functional independence, ambulation and hematoma expansion in spontaneous intracerebral hemorrhage (ICH).Methods
Retrospective analysis of prospectively collected data from an observational study of consecutive patients with spontaneous ICH, brain MRI within 1 month from ictus, premorbid modified Rankin Scale (mRS) score?≤?2, available imaging data and 90-day functional status in a tertiary academic center. Functional outcomes included 90-day functional independence (mRS?≤?2) and independent ambulation; radiographic outcome was hematoma expansion (>?12.5 ml absolute or >?33% relative increase in ICH volume). We identified the presence and burden of individual CSVD markers (cerebral microbleeds (CMBs), enlarged perivascular spaces, lacunes, white matter hyperintensities) and composite CSVD burden score and explored their association with outcomes of interest in multivariable models adjusting for well-established confounders.Results
111 patients were included, 65% lobar ICH, with a median volume 20.8 ml. 43 (38.7%) achieved functional independence and 71 (64%) independent ambulation. In multivariable adjusted models, there was higher total CSVD burden (OR 0.61, 95% CI 0.37–0.96, p?=?0.03) and CMBs presence (OR 0.32, 95% CI 0.1–0.88, p?=?0.04) remained independently inversely associated with functional independence. Individual CSVD markers or total CSVD score had no significant relation with ambulation and ICH expansion. Larger ICH volume and deep ICH location were the major determinants of lack of independent ambulation.Conclusions
Our findings suggest that in ICH patients without previous functional dependence, total CSVD burden and particularly presence of CMBs significantly affect functional recovery. The latter is a novel finding and merits further exploration.3.
Jinhua Zheng Xinglong Yang Yalan Chen Quanzhen Zhao Sijia Tian Hongyan Huang Yanming Xu 《Clinical autonomic research》2017,27(2):103-106
Purpose
To compare the order of presentation of bladder and motor symptoms between multiple system atrophy phenotypes.Methods
Medical records were retrospectively reviewed in 144 patients.Results
Bladder symptoms occurred either before or within 12 months after onset of motor symptoms in significantly more patients with the cerebellar phenotype than the parkinsonian phenotype (80 vs. 53%, p = 0.003); similar results were observed for urinary incontinence (79 vs. 45%, p = 0.001).Conclusions
Urinary dysfunction is more likely to appear either before or shortly after motor symptoms in the cerebellar phenotype than in the parkinsonian phenotype.4.
Purpose of Review
Spinal muscular atrophy (SMA) is a genetic disorder of motor neurons in the anterior horns of the spinal cord and brainstem that results in muscle atrophy and weakness. SMA is an autosomal recessive disease linked to deletions of the SMN1 gene on chromosome 5q. Humans have a duplicate gene (SMN2) whose product can mitigate disease severity, leading to the variability in severity and age of onset of disease, and is therefore a target for drug development.Recent Findings
Advances in preclinical and clinical trials have paved the way for novel therapeutic options for SMA patients, including many currently in clinical trials. In 2016, the first treatment for SMA has been approved in the USA, an antisense oligonucleotide that increases full-length protein product derived from SMN2.Summary
The approval of a first treatment for SMA and the rapid advances in clinical trials provide the prospect for multiple approaches to disease modification. There are several other promising therapeutics in different stages of development, based on approaches such as neuroprotection, or gene therapy.5.
Xiao Gao Xue Sun Maria G. Veldhuizen Yuko Nakamura Nils B. Kroemer Dana Small 《Chemosensory perception》2016,9(4):174-181
Introduction
Most functional magnetic resonance imaging (fMRI) studies of taste deliver small quantities of liquids over roughly 45 min to repeatedly sample brain response to tastants. Within this time participants frequently report that their need to urinate increases.Methods
Since both gustatory and interoceptive information are represented in the anterior insular cortex, we evaluated whether perceived need to urinate influenced insular responses to the receipt of a small bolus of milkshake in two datasets (n?=?45).Results
Change in pre- to post-scan ratings of desire to urinate was inversely related to anterior insular response to milkshake.Conclusion
This finding demonstrates that micturition drive influences insular response to milkshake and supports previous reports of overlapping gustatory and visceral representation within human anterior insular cortex.6.
Enrica Olivola Livia Brusa Camilla Rocchi Orazio Schillaci Claudio Liguori Rocco Cerroni Mariangela Pierantozzi Agostino Chiaravalloti Alessandro Stefani Fabrizio Stocchi 《Neurological sciences》2018,39(12):2169-2174
Background
Despite its negative impact on quality of life, fatigue in Parkinson’s disease (PD) remains an under-recognized issue and the underlying pathology is undetermined.Objective
To contribute at understanding the pathogenesis of fatigue in a naturalistic cohort of cognitively intact PD patients.Methods
In a Caucasian population of PD patients (n?=?27), we evaluated to what extent fatigue (quantified as PFS-16 score) is associated with PD duration and with autonomic dysfunction, studied by both MIBG scintigraphy and autonomic nervous system testing. The latter included the head-up tilt test, Valsalva maneuver, deep breathing, and handgrip tests.Results
PFS-16 score correlated with disease duration (R?=?0.57, p?=?0.002). Fatigue showed a clear correlation with deep breathing test (R?=???0.53, p?=?0.004) but not with the MIBG H/M ratios.Conclusions
Our data are consistent with a multifactorial pathogenesis of fatigue and with effects of dopamine depletion in PD-related fatigue; on the other hand, our findings do not support a role for sympathetic denervation in PD-related fatigue.7.
Objective and design
Whether combining intravenous thrombolysis (IVT) and mechanical thrombectomy (MT) is superior to mechanical thrombectomy alone for large vessel occlusion acute ischemic stroke is still uncertain. Our aim was to compare the safety and the efficacy of these two therapeutic strategies.Materials
Patients with acute ischemic stroke secondary to anterior circulation large vessel occlusion.Methods
A retrospective analysis was conducted. IVT was performed with full dose recombinant tissue plasminogen activator. MT alone was performed only if intravenous thrombolysis was contraindicated. Primary outcomes were successful reperfusion, 3-month functional independence, symptomatic intracranial hemorrhage (sICH), and 3-month mortality.Results
325 patients were analyzed: 193 treated with combined IVT and MT, 132 with MT alone. The combined treatment group showed higher systolic blood pressure (140 [80–230] vs 150 [90–220]; p?=?0.036), rate of good collaterals (55.9% vs 67%; p?=?0.03), use of aspiration devices (68.2% vs 79.3%; p?=?0.003) and shorter onset-to-reperfusion time (300 [90–845] vs 288 [141–435]; p?=?0.008). No differences were found in the efficacy and safety outcomes except for mortality which was lower in the combined treatment group (36.4% vs 25.4%; p?=?0.02). However, after multivariable analysis combined treatment was not associated with lower mortality (OR 1.47; 95% CI 0.73–2.96; p?=?0.3).Conclusions
Our study suggests that mechanical thrombectomy alone is effective and safe in patients with contraindications to intravenous thrombolysis. Preceding use of IVT in eligible patients was not associated with increased harm or benefit. Randomized controlled trials are needed to clarify whether intravenous thrombolysis before mechanical thrombectomy is associated with additional benefit.8.
Ziv Gan-Or Christopher Liong Roy N. Alcalay 《Current neurology and neuroscience reports》2018,18(8):44
Purpose of Review
GBA mutations are the most common known genetic cause of Parkinson’s disease (PD). Its biological pathway may be important in idiopathic PD, since activity of the enzyme encoded by GBA, glucocerebrosidase, is reduced even among PD patients without GBA mutations. This article describes the structure and function of GBA, reviews recent literature on the clinical phenotype of GBA PD, and suggests future directions for research, counseling, and treatment.Recent Findings
Several longitudinal studies have shown that GBA PD has faster motor and cognitive progression than idiopathic PD and that this effect is dose dependent. New evidence suggests that GBA mutations may be important in multiple system atrophy. Further, new interventional studies focusing on GBA PD are described. These studies may increase the interest of PD patients and caregivers in genetic counseling.Summary
GBA mutation status may help clinicians estimate PD progression, though mechanisms underlying GBA and synucleinopathy require further understanding.9.
Yhojan Rodríguez Manuel Rojas Carolina Ramírez-Santana Yeny Acosta-Ampudia Diana M. Monsalve Juan-Manuel Anaya 《Clinical autonomic research》2018,28(2):211-214
Purpose
To determine if autonomic symptoms are associated with previous Zika virus infection.Methods
Case–control study including 35 patients with Zika virus infection without evidence of neurological disease and 105 controls. Symptoms of autonomic dysfunction were assessed with the composite autonomic symptom scale 31 (COMPASS-31).Results
Patients with previous Zika virus infection had significantly higher COMPASS-31 score than controls regardless of age and sex (p = 0.007). The main drivers for the higher scores where orthostatic intolerance (p = 0.003), secretomotor (p = 0.04) and bladder symptoms (p < 0.001).Conclusion
Zika virus infection is associated with autonomic dysfunction. The mechanisms remain to be elucidated.10.
Yuanfeng Zhang Chunmei Wang Kunfang Yang Simei Wang Guoli Tian Yucai Chen 《Neurological sciences》2018,39(10):1697-1703
Objective
L-2-hydroxyglutaric aciduria is a genetic metabolic disorder. Its clinical features include elevated levels of hydroxyglutaric acid in body fluids and abnormal magnetic resonance imaging (MRI) in the subcortical white matter, which are affected by the accumulation of L-2-hydroxyglutaric acid.Method
A boy with psychomotor retardation and progressive ataxia accompanied by abnormal brain MRI findings was tested using whole-exome sequencing.Results
Next-generation sequencing (NGS) revealed two novel compound heterozygous frameshift mutations, c.407 del A (p.K136SfsTer3) and c.699_c700 ins A (p.D234RfsTer42), in the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene, leading to premature termination codons and truncated FAD/NAD(P)-binding domain of L2HGDH protein. Further laboratory testing revealed an increase in the 2-hydroxyglutaric acid level in the urine.Conclusion
The results suggested that NGS could provide clues for identifying patients with abnormal neuroradiological findings in the subcortical white matter.11.
Objective
The variability of the severity and regional distribution of pathological process in basal ganglia (BG) and brainstem–cerebellar systems results in clinical heterogeneity and represents the motor subtype of multiple system atrophy (MSA). This study aimed to quantify spatial patterns of multimodal MRI abnormalities in BG and stem-CB regions and define structural MRI findings that correlate with clinical characteristics.Methods
We simultaneously measured R2*, mean diffusivity (MD), and volume in the subcortical structures (BG, thalamus, brainstem–cerebellar regions) of 39 probable MSA and 22 control subjects. Principal component analysis (PCA) and structural equation modeling (SEM) were performed to show a model consisting of multiple inter-dependencies.Results
Structural MRI alterations were found to be significantly interrelated within BG as well as brainstem–cerebellar regions in MSA patients. PCA extracted four factors: three factors reflected alterations in R2*, MD and volume of the BG region including the caudate nucleus, putamen, and pallidum, and the remaining one factor represented degenerative changes in MD and volume of stem-CB region. In SEM, a latent variable reflecting brainstem–cerebellar degeneration did not show a significant correlation with the other latent variables associated with BG degeneration. Putaminal MD values and a PCA-driven factor reflecting MD values in the BG showed a significant correlation with UPDRS and UMSARS scores.Conclusion
Multimodal structural MRI abnormalities in MSA appear to be segregated into BG and stem-CB-related factors that can be associated with the clinical phenotype and motor severity.12.
Background
Treatment choice in multiple sclerosis (MS) is crucial for optimizing risk–benefit profile.Objective
To assess fingolimod (FTY) effectiveness and identify baseline features associated to disease activity in a large Italian cohort of Relapsing–Remitting (RR) MS patients.Methods
Three-hundred sixty-seven RRMS patients starting FTY treatment at San Raffaele Hospital (Milan-Italy) underwent clinical and MRI evaluations for 2 years. Treatment response was assessed considering the proportion of patients with no evidence of disease activity (NEDA) and recording the time to first relapse. Primary analyses were performed stratifying for Natalizumab (NTZ) treatment in the year before (NO_NTZ vs NTZ group), to account for post-NTZ reactivation.Results
Almost half of patients were NEDA after 2 years, 53.4% in the NO_NTZ group and 36.2% in the NTZ group. Despite an opposite trend during the first 6–12 months, at 2-year follow-up the two groups were comparable for relapses and number of new/enlarging T2 and Gd-enhancing lesions. Baseline parameters of higher disease activity (ARR, Gd enhancing lesions and age at onset) were associated with increased likelihood of failing NEDA criteria or with shorter time to relapse (p < 0.05).Conclusions
Our data strengthen FTY effectiveness in everyday clinical practice, even in patients switching from NTZ treatment. Baseline parameters of inflammatory activity are the most important prognostic factors for mid-term disease reactivation also during second-line treatment with FTY, providing hints on how to select therapies towards a more personalized management.13.
Michael J. Sagherian Tania B. Huedo-Medina Jennie A. Pellowski Lisa A. Eaton Blair T. Johnson 《Annals of behavioral medicine》2016,50(6):920-934
Background
Evidence-based, single-session STI/HIV interventions to reduce sexual risk taking are potentially effective options for implementation in resource-limited settings and may solve problems associated with poor participant retention.Purpose
The purpose of the study is to estimate the efficacy of single-session, behavioral interventions in reducing unprotected sex or increasing condom use.Methods
Data sources were searched through April 2013 producing 67 single-session interventions (52 unique reports; N?=?20,039) that included outcomes on condom use and/or unprotected sex.Results
Overall, participants in single-session interventions reduced sexual risk taking relative to control groups (d + ?=?0.19, 95 % CI?=?0.11, 0.27). Within-group effects of the interventions were larger than the between-groups effects when compared to controls.Conclusions
Brief, targeted single-session sexual risk reduction interventions demonstrate a small but significant effect and should be prioritized.14.
Background
Low serum levels of 25-hydroxyvitamin D have been associated with worse outcomes in multiple sclerosis (MS) patients treated with interferon-beta. Association of vitamin D nutrition on the outcomes of other MS therapies has been studied less.Objective
Whether patients in the phase 3 fingolimod trials using vitamin D supplements have better clinical, MRI and safety outcomes than non-users.Materials and methods
Pooled data from phase 3 FREEDOMS trials was analyzed post hoc. Vitamin D use was defined as ‘non-users’ (n = 562), ‘casual users’ (n = 157) and ‘daily users’ (usage 100% time in the study, n = 110).Results
Expanded Disability Status Scale change from baseline to month 24, and annual relapse rate and proportion of patients with relapses were similar across the vitamin D user groups. Proportion of patients free of new/enlarging T2 lesions significantly favored vitamin D ‘daily users’ versus ‘non-users’. Mean number of lesions were lower and proportion of patients free of gadolinium-enhanced T1-lesions were higher in the ‘daily users’. At month 12, percent brain volume change was significantly lower in the ‘daily users’ versus ‘non-users’ and remained low at month 24 (non-significant). Incidence of depression was lower for vitamin D ‘daily users’ (non-significant).Conclusions
We observed improved MRI outcomes on percent brain volume change and proportion of patients free of new/enlarging T2 lesions, and a trend of less depression in the ‘daily users’ of vitamin D supplement in patients in the FREEDOMS trials.15.
Kristian Aquilina Thomas E. Merchant Frederick A. Boop Robert A. Sanford 《Child's nervous system》2009,25(11):1429-1436
Object
The small posterior fossa is believed to be relevant to the development of Chiari I malformation (CMI). In this study, we evaluated children with supratentorial tumors developing CMI after radiation therapy (RT) that involved the skull base. Changes in clivus and supraocciput growth rate were correlated with tonsillar herniation.Methods
Ten children who underwent RT for supratentorial tumors at St. Jude Children's Research Hospital (1994–2008) developed CMI on follow-up magnetic resonance imaging (MRI). Four other patients with supratentorial tumor and CMI who did not receive RT were identified. Length of the supraocciput, basisphenoid, and basichondrium and extent of tonsillar herniation were measured on serial midsagittal MRI.Results
Over the median follow-up of 85.5 months, basisphenoid annual growth rate was significantly lower in children receiving RT for suprasellar tumor (n?=?8) than those who did not (p?=?0.04). Growth of clivus and basisphenoid was significantly lower in the first 12 months after RT in children who received RT for suprasellar tumor (p?=?0.03 and p?=?0.04, respectively). In these patients, tonsillar herniation increased over 24 months after RT, reaching maximal descent at a mean of 20.2 months; this resolved as clival growth returned to normal. No patient was symptomatic.Conclusions
In these children, restriction of clival growth occurred after RT for suprasellar tumors. Changes in clival growth were associated with changes in the extent of tonsillar herniation. This supports the importance of the small posterior fossa and reduced clival length in the etiology of CMI.16.
Svetlana Tomic Vlasta Pekic Zeljka Popijac Tomislav Pucic Marta Petek Vinkovic Tihana Gilman Kuric Zvonimir Popovic 《Neurological sciences》2018,39(10):1691-1695
Introduction
Parkinson’s disease (PD) is a neurodegenerative disease with many motor and non-motor symptoms. Hyperhomocysteinemia is reported in many PD patients. Homocysteine (Hcy) is reported to be a risk factor for some PD non-motor symptoms.Aim
The aim was to analyze Hcy level and its correlation with physical activity and motor and some non-motor symptoms (depression and cognition) in PD patients.Patients and methods
Patients were surveyed for physical activity and demographic data. Blood samples were obtained for Hcy, vitamin B12, and folic acid determination. The Mini Nutritional Assessment (MNA), Unified Parkinson’s Disease Rating Scale (UPDRS) parts III and IV, Hoehn and Yahr (H&Y) Scale, Beck Depression Inventory (BDI), and Mini Mental State Examination (MMSE) were used to assess nutritional status, disease stage, and motor and some non-motor symptoms (depression and cognition) of PD in study patients.Results
We analyzed 34 PD patients. Elevated Hcy level was found in 70.6% of these patients. Patients reporting regular exercise had lower Hcy level (p?<?0.025). Hcy level yielded a statistically significant correlation with MNA score (rs?=???0.510; p?<?0.003), UPDRS part III (rs?=?0.372; p?<?0.030), vitamin B12 (rs?=???0.519; p?<?0.002), and folic acid (rs?=???0.502; p?<?0.003) but not with cognition and depression. There were no statistically significant differences in Hcy level for disease stage either for dyskinesia or “off” periods.Conclusion
PD patients are at a risk of hyperhomocysteinemia. Regular physical activity decreases Hcy level, whereas poor motor function increases it. There is correlation between Hcy level and malnutrition in PD patients.17.
Sarah Nelson Brian L. Edlow Ona Wu Eric S. Rosenthal M. Brandon Westover Guy Rordorf 《Neurocritical care》2016,25(2):237-242
Background
The etiology of altered consciousness in patients with high-grade aneurysmal subarachnoid hemorrhage (SAH) is not thoroughly understood. We hypothesized that decreased cerebral blood flow (CBF) in brain regions critical to consciousness may contribute.Methods
We retrospectively evaluated arterial-spin labeled (ASL) perfusion magnetic resonance imaging (MRI) measurements of CBF in 12 patients with aneurysmal SAH admitted to our neurocritical care unit. CBF values were analyzed within gray matter nodes of the default mode network (DMN), whose functional integrity has been shown to be necessary for consciousness. DMN nodes studied were the bilateral medial prefrontal cortices, thalami, and posterior cingulate cortices. Correlations between nodal CBF and admission Glasgow Coma Scale (GCS) score, admission Hunt and Hess (HH) class, and GCS score at the time of MRI (MRI GCS) were tested.Results
Spearman’s correlation coefficients were not significant when comparing admission GCS, admission HH, and MRI GCS versus nodal CBF (p > 0.05). However, inter-rater reliability for nodal CBF was high (r = 0.71, p = 0.01).Conclusions
In this retrospective pilot study, we did not identify significant correlations between CBF and admission GCS, admission HH class, or MRI GCS for any DMN node. Potential explanations for these findings include small sample size, ASL data acquisition at variable times after SAH onset, and CBF analysis in DMN nodes that may not reflect the functional integrity of the entire network. High inter-rater reliability suggests ASL measurements of CBF within DMN nodes are reproducible. Larger prospective studies are needed to elucidate whether decreased cerebral perfusion contributes to altered consciousness in SAH.18.
Jenny M. Cundiff Thomas W. Kamarck Stephen B. Manuck 《Annals of behavioral medicine》2016,50(6):854-861
Background
Socioeconomic position is a well-established risk factor for poor physical health.Purpose
This study examines whether the effects of lower social rank on physical health may be accounted for by differences in daily social experience.Methods
In a large community sample (N?=?475), we examined whether subjective social rank is associated with self-rated health, in part, through positive and negative perceptions of daily interpersonal interactions, assessed using ecological momentary assessment.Results
Higher social rank was associated with higher average perceived positivity of social interactions in daily life (e.g., B?=?.18, p?<?.001), but not with perceived negativity of social interactions. Further, the association between social rank and self-rated physical health was partially accounted for by differences in perceived positivity of social interactions. This effect was independent of well-characterized objective markers of SES and personality traits.Conclusions
Differences in the quality of day-to-day social interactions is a viable pathway linking lower social rank to poorer physical health.19.
M. Meyer G. Di Scala M. Edde B. Dilharreguy F. Radat M. Allard S. Chanraud 《Behavioral and brain functions : BBF》2017,13(1):6
Background
Spatial normalization of brain images, a prerequisite for voxel based morphometry analysis, may account for the large variability of the volumetric data in medication overuse headache (MOH); possibly because this disease concerns patients differing on both sex and age, and hence with different brain size and shape.Methods
The present study aimed at providing a subject-based analysis of macrostructure using a native space volumes segmentation (Freesurfer), and microstructure using a region of interest (ROI: i.e. hippocampus) tractography approach in MOH patients.Results
The results show that MOH patients had decreased volumes of left hemisphere temporal gyri (temporal superior, fusiform) and occipital middle gyrus, together with an increased volume of the left inferior (temporal) lateral ventricle. The left temporal volume was negatively correlated with depression score and medication dependence parameters. Seed-based tractography of the hippocampus revealed a decreased number of reconstructed fibers passing through the left hippocampus.Conclusion
To our knowledge, these alterations have not been described with methods involving brain normalization, and they indicate that left hemisphere temporal areas, including the hippocampus, may play a role in MOH pathophysiology. Trial registration number NCT00833209. Registered 29 January 200920.