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1.
Background
Frontotemporal lobar degeneration (FTLD) includes a spectrum of heterogeneous clinical and neuropathological diseases. In a strict sense this includes the behavioral variant of frontotemporal dementia (bvFTD) and primary progressive aphasia (PPA) and both variants can be associated with amyotrophic lateral sclerosis (FTD-ALS). In a broader sense FTLD also includes progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS). In recent years the strong genetic component of FTLD has become increasingly clear.Objective
The association between clinical presentation, neuropathology, genetics and pathophysiological mechanisms of FTLD are presented.Results
The diagnostic criteria and tools for the clinical differential diagnosis of FTLD are presented. At autopsy patients show neuronal and glial inclusions of Tau, TDP-43 or FUS. While Tau pathology is often associated with extrapyramidal symptoms, patients with TDP-43 and FUS inclusions often also show signs of ALS. Pathogenic mutations directly increase the aggregation propensity of these proteins or impair protein degradation through autophagy or the proteasome. Pathogenic mutations in most FTLD genes trigger cytoplasmic missorting and aggregation of the RNA-binding protein TDP-43 and thus lead to a nuclear loss of TDP-43 function. Microgliosis and mutations in GRN and TREM2 suggest an important role of neuroinflammation in FTLD.Conclusion
There is still no causal therapy for FTLD but preclinical studies focusing on pathogenic mutations in C9orf72, GRN and Tau may lead to clinical trials soon; therefore, establishing large well characterized patient cohorts is crucial for trial readiness.2.
Background
Nonconvulsive status epilepticus (NCSE) is associated with a poor outcome and is furthermore a diagnostic challenge in routine clinical work.Objective
Several sets of diagnostic criteria exist. What is the difference between them and which ones have been evaluated? Which concept can be recommended in the light of current knowledge?Material and methods
A survey on the current literature is provided and a structured approach for diagnosing NCSE is given.Results
Only one study on evaluation of the diagnostic criteria for NCSE exists, i.?e. the “Salzburg criteria for NCSE”, which were investigated retrospectively in a multicenter study. The diagnosis of NCSE is based on clinical and EEG data. The additional implementation of paraclinical information, such as cerebral imaging, emergency and toxicology laboratories is mandatory.Conclusion
Currently available criteria enable efficient and effective management of the majority of patients suspected of having NCSE; however, in individual cases it has to be taken into consideration that the criteria can be falsely positive or falsely negative.3.
Natalya Lisovska Zholtay Daribayev Yevgeny Lisovskyy Kenzhe Kussainova Lana Austin Sholpan Bulekbayeva 《Child's nervous system》2016,32(11):2111-2117
Background
The cerebral palsy is highly actual issue of pediatrics, causing significant neurological disability. Though the great progress in the neuroscience has been recently achieved, the pathogenesis of cerebral palsy is still poorly understood.Methods
In this work, we reviewed available experimental and clinical data concerning the role of immune cells in pathogenesis of cerebral palsy. Maintaining of homeostasis in nervous tissue and its transformation in case of periventricular leukomalacia were analyzed.Results
The reviewed data demonstrate involvement of immune regulatory cells in the formation of nervous tissue imbalance and chronicity of inborn brain damage. The supported opinion, that periventricular leukomalacia is not a static phenomenon, but developing process, encourages our optimism about the possibility of its correction.Conclusions
The further studies of changes of the nervous and immune systems in cerebral palsy are needed to create fundamentally new directions of the specific therapy and individual schemes of rehabilitation.4.
Purpose of Review
Tauopathies represent a spectrum of incurable and progressive age-associated neurodegenerative diseases that currently are diagnosed definitively only at autopsy. Few clinical diagnoses, such as classic Richardson’s syndrome of progressive supranuclear palsy, are specific for underlying tauopathy and no clinical syndrome is fully sensitive to reliably identify all forms of clinically manifest tauopathy. Thus, a major unmet need for the development and implementation of tau-targeted therapies is precise antemortem diagnosis. This article reviews new and emerging diagnostic therapies for tauopathies including novel imaging techniques and biomarkers and also reviews recent tau therapeutics.Recent Findings
Building evidence from animal and cell models suggests that prion-like misfolding and propagation of pathogenic tau proteins between brain cells are central to the neurodegenerative process. These rapidly growing developments build rationale and motivation for the development of therapeutics targeting this mechanism through altering phosphorylation and other post-translational modifications of the tau protein, blocking aggregation and spread using small molecular compounds or immunotherapy and reducing or silencing expression of the MAPT tau gene.Summary
New clinical criteria, CSF, MRI, and PET biomarkers will aid in identifying tauopathies earlier and more accurately which will aid in selection for new clinical trials which focus on a variety of agents including immunotherapy and gene silencing.5.
Background
The fixed dystonia phenotype was originally established as a prototype of functional dystonia. Nevertheless, in recent reports different functional dystonia phenotypes have been recognized with dystonic movement comprising phasic instead of tonic contraction.Objectives
To examine clinical characteristic in all patients with dystonia who fulfilled the criteria for functional movement disorders irrespective of phenotype in an attempt to determine parameters of clinical presentations that might impact the disease progression pattern and outcome.Methods
Patients presented with dystonia features incompatible with organic disease without other features required for the diagnosis of functional movement disorders were analyzed and prospectively followed-up. The two-step cluster analysis was performed to obtain the subgroups of dystonia phenotypes.Results
The two-step cluster analysis extracted two subgroup of patients. Patients of the first cluster (68.8%) presented with “mobile” dystonia (84.9%), of cranial/neck/trunk localization (90.9%), fluctuated clinical course (69.7%), with frequent additional movement or other functional neurological disorders (63.6%) during follow-up. In the second cluster (31.2%) all of the patients presented with “fixed” dystonia of extremities, and the clinical course was characterized by either the disease progression (60%), or continuous without improvement (26.7%), and rare occurrence of additional functional neurological disorders (13.3%).Conclusion
In terms of clinical and demographic features as well as pattern of disease progression there are two clinical phenotypes in patients with functional dystonia. Distinctive features of incongruence and inconstancy are characteristic for “mobile” functional dystonia subgroup of patients.6.
Robert Carroll Duleeka Knipe Paul Moran David Gunnell 《Social psychiatry and psychiatric epidemiology》2017,52(12):1475-1481
Purpose
Socioeconomic deprivation is associated with increased rates of self-harm but its association with levels of clinical care has not previously been explored. The aim of the current study was to investigate socioeconomic differences in the clinical management of people who self-harm.Methods
Cross-sectional analysis of 3607 people presenting to a large inner-city hospital following self-harm.Results
People living in the least deprived quintile were more likely to receive a psychosocial assessment (most vs. least deprived: 63.51 vs. 70.14%). This effect persisted in our fully adjusted model (OR 1.45, CI 1.15–1.82, p = 0.002). Mediation analysis suggested this association was in large part explained by higher rates of self-discharge in people presenting from areas of higher deprivation.Conclusions
Compared to those from more deprived areas, people from less deprived areas are more likely to receive a psychosocial assessment when presenting to hospital following self-harm. The occurrence of higher rates of self-discharge from emergency departments among those from more deprived areas may explain the association.7.
Background
Brain imaging is one of the most important diagnostic methods for evaluating headache during pregnancy. In this study, we aimed to identify anamnestic and clinical predictors for pathological brain imaging findings in pregnant women suffering from acute headache.Methods
We conducted a retrospective chart review of 151 pregnant women with acute headache between 2010 and 2016. We screened the medical records of these patients and analyzed radiological variables, including brain imaging frequency and modality, delay to imaging and imaging findings. In patients with brain imaging, we compared several anamnestic and clinical features between those with and without symptomatic pathological findings.Results
Half of the patients (50.3%) underwent brain imaging, mainly magnetic resonance imaging (MRI) including venography (53.9%) or MRI including both venography and arteriography (31.6%). Symptomatic pathological results could be observed in 27.6% of the patients with a brain scan. Patients in the first trimester with acute headache had a statistically higher risk for a symptomatic pathological imaging finding (p?=?0.024). Strong pain intensity, a reduced level of consciousness and seizures were significantly associated with a symptomatic pathological imaging outcome across all stages of pregnancy.Conclusion
Brain imaging may reveal a secondary headache etiology in more than 25% of pregnant women presenting with acute headache. In particular, when the acute headache is of severe intensity, and the headache is accompanied by seizures or a change in consciousness, brain imaging is required.8.
Gemma Lombardi Cristina Polito Valentina Berti Camilla Ferrari Giulia Lucidi Silvia Bagnoli Irene Piaceri Benedetta Nacmias Alberto Pupi Sandro Sorbi 《Neurological sciences》2018,39(7):1203-1210
Background
An early differentiation between Alzheimer’s Disease (AD) and other dementias is crucial for an adequate patients’ management, albeit it may result difficult for the occurrence of “atypical presentations.” Current diagnostic criteria recognize the importance of biomarkers for AD diagnosis, but still an optimal diagnostic work-up isn’t available.Objective
Evaluate the utility and reproducibility of biomarkers and propose an “optimal” diagnostic work-up in atypical dementia.Methods
(1) a retrospective selection of “atypical dementia cases”; (2) a repetition of diagnostic assessment by two neurologists following two different diagnostic work-ups, each consisting of multiple steps; (3) a comparison between diagnostic accuracy and confidence reached at each step by both neurologists and evaluation of the inter-rater agreement.Results
In AD, regardless of the undertaken diagnostic work-up, a significant gain in accuracy was reached by both neurologists after the second step, whereas in frontotemporal dementia (FTD), adding subsequent steps was not always sufficient to increase significantly the baseline accuracy. A relevant increment in diagnostic confidence was detectable after studying pathophysiological markers in AD, and after assessing brain metabolism in FTD. The inter-rater agreement was higher at the second step for the AD group when the pathophysiological markers were available and for the FTD group when the results of FDG-PET were accessible.Conclusions
In atypical cases of dementia, biomarkers significantly raise diagnostic accuracy, confidence, and agreement. This study introduces a proof of diagnostic work-up that combines imaging and CSF biomarkers and suggests distinct ways to proceed on the basis of a greater diagnostic likelihood.9.
Marcy Yonker 《Current neurology and neuroscience reports》2018,18(9):61
Introduction
Headaches are a common occurrence in childhood and adolescence. Most children presenting with a chief complaint of headache have a self-limited infectious disorder or primary headache syndrome that should not require extensive workup.Purpose of Review
Differentiating these conditions from other more serious causes of headache in children can sometimes be difficult. This article aims to provide information regarding “red flags” that should indicate a need for concern for disorders that require more urgent evaluation.Recent Findings
Long-held beliefs about specific “red flags” that have been analyzed in recent years as to their validity and new criteria for the diagnosis of idiopathic intracranial hypertension have been elaborated based on study. These publications are reviewed in this article.Summary
Knowledge of past and current literature on secondary headache in children, combined with thorough history taking and examination, should help determine when there is concern for a serious secondary cause for headache in children and adolescents and direct workup.10.
Tamer Yazar Hülya Olgun Yazar Emel Zayimoğlu Soner Çankaya 《Neurological sciences》2018,39(8):1415-1421
Aim
In this study, the aim was to identify the incidence of sarcopenia and dynapenia according to disease stage among idiopathic Parkinson’s disease (IPD) patients and collect data to illuminate precautions related to reducing the disease load.Method
The study was completed with 166 patients divided by stage according to modified Hoehn and Yahr (HYR) criteria and 249 healthy volunteers aged from 18 to 39 and 68 to 75 years met the inclusion criteria. In our prospective and cross-sectional study, patients with IPD according to “UK Brain Bank” diagnostic criteria had the Unified Parkinson’s Disease Rating Scale (UPDRS) and HYR scales applied. The patient and control groups had skeletal muscle mass index (SMMI), muscle power, and physical performance assessed. Diagnosis of sarcopenia used the European Working Group on Sarcopenia in Older People (EWGSOP) diagnostic criteria.Results
In our study, in parallel with the increase in disease stage among IPD patients, the incidence of sarcopenia (led by severe sarcopenia) and dynapenia was high compared to that among the control group of the same age.Conclusion
In the early stages of chronic progressive diseases like IPD, identification of sarcopenia and dynapenia is important considering the limitations of disease-preventive effects in treatments applied after diagnosis.11.
Lara Hilton Susanne Hempel Brett A. Ewing Eric Apaydin Lea Xenakis Sydne Newberry Ben Colaiaco Alicia Ruelaz Maher Roberta M. Shanman Melony E. Sorbero Margaret A. Maglione 《Annals of behavioral medicine》2017,51(2):199-213
Background
Chronic pain patients increasingly seek treatment through mindfulness meditation.Purpose
This study aims to synthesize evidence on efficacy and safety of mindfulness meditation interventions for the treatment of chronic pain in adults.Method
We conducted a systematic review on randomized controlled trials (RCTs) with meta-analyses using the Hartung-Knapp-Sidik-Jonkman method for random-effects models. Quality of evidence was assessed using the GRADE approach. Outcomes included pain, depression, quality of life, and analgesic use.Results
Thirty-eight RCTs met inclusion criteria; seven reported on safety. We found low-quality evidence that mindfulness meditation is associated with a small decrease in pain compared with all types of controls in 30 RCTs. Statistically significant effects were also found for depression symptoms and quality of life.Conclusions
While mindfulness meditation improves pain and depression symptoms and quality of life, additional well-designed, rigorous, and large-scale RCTs are needed to decisively provide estimates of the efficacy of mindfulness meditation for chronic pain.12.
Background
Status epilepticus (SE) is an epileptic complication of neurological disorders and associated with a poor outcome. The early diagnosis and treatment are of paramount importance. In 2015 the International League Against Epilepsy (ILAE) proposed a new set of diagnostic criteria and a classification of SE.Objective
What will change in daily practical work due to the new ILAE 2015 criteria for SE?Material and methods
A survey on the current literature and a detailed presentation of the criteria for diagnosis and classification regarding ILAE 2015 are provided.Results
Bilateral tonic-clonic seizures in SE (convulsive SE) are diagnosed after 5 min (time T1) in order for treatment to be successful within 30?min (time T2) to prevent permanent neuronal damage. In cases of focal seizures with or without impaired consciousness or absence status, the diagnosis and initiation of treatment should be made within 10?min. Regarding the time period T2 there is only limited evidence available. The most important semiological criteria are the differentiation according to the presence or absence of prominent motor phenomena and the state of consciousness. Further taxonomic axes are the etiology, EEG and age. In a retrospective study the applicability of the criteria was good.Conclusion
The ILAE 2015 definition and classification are transparent, clear, well arranged and easily applicable in routine clinical work. The simultaneous semiological classification of motor phenomena and impairment of consciousness is the most important scientific advantage.13.
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.14.
Background
It is still unclear how well the established attention deficit-hyperactive disorder (ADHD)-specific rating scales can differentiate between ADHD symptoms and symptoms of other mental disorders.Methods
A total of 274 patients with suspected adult ADHD were extensively examined clinically and guideline-conform in an ADHD outpatient clinic. In 190 patients the diagnosis of ADHD could be made with certainty. The patients were also subsequently assessed according to the DSM IV criteria by self-rating scales on current (ADHS-SB, ASRS, CAARS) and retrospective (WURS-K) complaints. A binary logistic regression analysis was performed in order to extract from the questionnaires, which could best distinguish the diagnosis of ADHD from other mental disorders.Results
The results showed that two self-rating scales (WURS-K and ADHS-SB) were sufficient to correctly diagnose ADHD in 83% of the patients examined with a sensitivity of 94% and specificity of 56%.Conclusion
The ADHD-specific self-rating scales are additionally useful for the diagnostic differentiation between ADHD-specific and other psychiatric symptoms in the clinical practice and can improve the safety of the diagnosis.15.
Purpose
The relationship between tonsil position and symptomatic cerebellar contusion is unclear. To date, there are no reports of symptomatic traumatic brain injury associated with benign tonsillar ectopia. Reported cases are limited to prominent cerebellar tonsillar displacement by ≥5 mm (i.e., Chiari malformations).Methods
The authors describe a case of symptomatic concussion in a toddler with unusual computerized tomography (CT) presentation and incidental finding of benign tonsillar ectopia, hemorrhagic contusion of the tonsils, blood-brain barrier (BBB) disruption and delayed atrophy shown using magnetic resonance imaging (MRI) studies. The radiological presentation and the clinical challenges are discussed through a review of the literature.Conclusion
This case suggests that damage to cerebellar structures is not limited only to overt tonsillar herniation. Benign tonsillar ectopia may predispose to cerebellar contusion even after minor concussion and thus has a clinical significance. The current paradigm viewing only noticeable tonsillar herniation as a risk factor for hindbrain injury should be revisited.16.
Chun Fai Cheah Mario Kofler Alois Josef Schiefecker Ronny Beer Gert Klug Bettina Pfausler Raimund Helbok 《Neurocritical care》2017,26(2):284-291
Background
Takotsubo cardiomyopathy (TC) is a well-known complication after aneurysmal subarachnoid hemorrhage and has been rarely described in patients with traumatic brain injury (TBI).Methods
Case report and review of literature.Results
Here, we report a 73-year-old woman with mild traumatic brain injury (TBI) presenting in cardiogenic shock. Takotsubo cardiomyopathy (TC) was diagnosed by repeated echocardiography. Cardiovascular support by inotropic agents led to hemodynamic stabilization after initiation of levosimendan. Cardiac function fully recovered within 21 days. We performed an in-depth literature review and identified 16 reported patients with TBI and TC. Clinical course and characteristics are discussed in the context of our patient.Conclusion
Takotsubo cardiomyopathy is under-recognized after TBI and may negatively impact outcome if left untreated.17.
Loic Sigwalt Emeline Bourgeois Ahmad Eid Chantal Durand Jacques Griffet Aurélien Courvoisier 《Child's nervous system》2016,32(5):873-876
Purpose
Giant cell tumors (GCT) are benign primary bone tumors, locally aggressive, affecting in long bones in young adults during the third decade. It is rare to experience this lesion in skeletally immature patients. GCT are related to a risk of local recurrence and malignant transformation.Method
We report a rare case of a giant cell tumor of the thoracic spine in a skeletally immature girl presenting with a painful right scoliosis.Results
MRI, CT scan, and bone scintigraphy were discordant and the percutaneous biopsy non-contributive.Conclusion
A marginal “en bloc” resection was performed and revealed the GCT. Based on a literature review, the diagnosis and the surgical management of this case are discussed.18.
Atsushi Fukunaga Ken Washio Mayumi Hatakeyama Yoshiko Oda Kanako Ogura Tatsuya Horikawa Chikako Nishigori 《Clinical autonomic research》2018,28(1):103-113
Purpose
The aim of this study was to review the evidence on the epidemiology, physiopathology, categorization, and management of cholinergic urticaria. We specifically focused on several subtypes of cholinergic urticaria and investigated the relationship between cholinergic urticaria and idiopathic anhidrosis.Methods
Using an integrative approach, we reviewed publications addressing the epidemiology, clinical features, diagnostic approach, physiopathology, subtype classification, and therapeutic approach to cholinergic urticaria.Results
Multiple mechanisms were found to contribute to the development of cholinergic urticaria. This disorder should be classified based on the pathogenesis and clinical characteristics of each subtype. Such a classification system would lead to better management of this resistant condition. In particular, sweating function should be given more attention when examining patients with cholinergic urticaria.Conclusions
Because cholinergic urticaria is not a homogeneous disease, its subtype classification is essential for selection of the most suitable therapeutic method.19.
Giacomo Vivanti Taralee Hamner Nancy Raitano Lee 《Current neurology and neuroscience reports》2018,18(12):94
Purpose of Review
In this review, we summarize current knowledge and hypotheses on the nature of social abnormalities in autism spectrum disorder (ASD) and Williams syndrome (WS).Recent Findings
Social phenotypes in ASD and WS appear to reflect analogous disruptions in social cognition, and distinct patterns of social motivation, which appears to be reduced in ASD and enhanced in WS. These abnormalities likely originate from heterogeneous vulnerabilities that disrupt the interplay between domain-general and social domain-specific cognitive and motivational processes during early development. Causal pathways remain unclear.Summary
Advances and research gaps in our understanding of the social phenotypes in ASD and WS highlight the importance of (1) parsing the construct of sociability, (2) adopting a developmental perspective, (3) including samples that are representative of the spectrum of severity within ASD and WS in neuroscientific research, and (4) adopting transdiagnostic treatment approaches to target shared areas of impairment across diagnostic boundaries.20.
David K. Chen Esha Sharma W. Curt LaFranceJr 《Current neurology and neuroscience reports》2017,17(9):71