-
Acta Neurologica Belgica Sep 2018Sporadic Creutzfeldt-Jakob disease (sCJD) is a human prion disease that is a relatively common differential diagnosis in dementia patients. Therefore it needs a good... (Review)
Review
A systematic review comparing the diagnostic value of 14-3-3 protein in the cerebrospinal fluid, RT-QuIC and RT-QuIC on nasal brushing in sporadic Creutzfeldt-Jakob disease.
BACKGROUND
Sporadic Creutzfeldt-Jakob disease (sCJD) is a human prion disease that is a relatively common differential diagnosis in dementia patients. Therefore it needs a good diagnostic tool. Brain autopsy is the golden standard for the diagnosis of CJD; however, a less invasive technique is 14-3-3 protein measurement in the cerebrospinal fluid (CSF). In this systematic review, we compared the diagnostic value of the 14-3-3 protein measurement to the newer RT-QuIC test and a variant of RT-QuIC where nasal brushing is used to collect the samples.
METHODS
The search via MeSH terms and quality assessment was carried out by two individual researchers.
RESULTS
In 14-3-3 and RT-QuIC the sensitivity was comparable, respectively, 88% and 86%. Specificity however was higher in RT-QuIC 99.5% compared to 80% in 14-3-3. Nasal brushing showed the best results with a sensitivity of 97% and a specificity of 100%.
CONCLUSION
Nasal brushing, despite being the best diagnostic tool according to the data, needs more study since there has only been a few studies regarding the technique. It is safe to say that due to the high specificity, RT-QuIC is superior to 14-3-3 testing.
Topics: 14-3-3 Proteins; Biomarkers; Brain; Creutzfeldt-Jakob Syndrome; Humans; Sensitivity and Specificity
PubMed: 30097826
DOI: 10.1007/s13760-018-0995-8 -
Frontiers in Neuroscience 2021Alzheimer's disease (AD) is a primary, progressive, neurodegenerative disorder. Many risk factors for the development of AD have been investigated, including nutrition....
Alzheimer's disease (AD) is a primary, progressive, neurodegenerative disorder. Many risk factors for the development of AD have been investigated, including nutrition. Although it has been proven that nutrition plays a role in AD, the precise mechanisms through which nutrition exerts its influence remain undefined. The object of this study is to address this issue by elucidating some of the mechanisms through which nutrition interacts with AD. This work is a qualitative systematic bibliographic review of the current literature searchable on various available databases, including PubMed, Web of Science, and Google Scholar. Our evidence comprises 31 articles selected after a systematic search process. Patients suffering with AD present a characteristic microbiome that promotes changes in microglia generating a proinflammatory state. Many similarities exist between AD and prion diseases, both in terms of symptoms and in the molecular mechanisms of pathogenesis. Changes in the composition of the gut microbiome due to dietary habits could be one of the environmental factors affecting the development of AD; however, this is probably not the only factor. Similarly, the mechanism for self-propagation of beta-amyloid seen in AD is similar to that seen in prions.
PubMed: 34489620
DOI: 10.3389/fnins.2021.677777 -
Journal of Clinical Neuroscience :... Apr 2021The Heidenhain variant of Creutzfeld-Jakob disease (HvCJD) is a relentlessly progressive and fatal neurodegenerative disorder characterised by prominent visual features...
The Heidenhain variant of Creutzfeld-Jakob disease (HvCJD) is a relentlessly progressive and fatal neurodegenerative disorder characterised by prominent visual features early in its clinical course. However, seizures are uncommonly reported in HvCJD. The case history of a patient admitted to our institution with HvCJD and seizures is described followed by a systematic review of the association between HvCJD and seizures. A systematic search of the databases Medline, PubMed, and PsycInfo was conducted, from inception to November 2019, using keywords relating to 'Creutzfeldt-Jakob disease' and 'Heidenhain variant', to ascertain the frequency of seizures in HvCJD, as well as, seizure semiology and electrographic features. The Preferred Items Reporting for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed in the construction of this systematic review. All studies, including case reports of patients who met the diagnostic criteria for HvCJD where details pertaining to clinical presentation, imaging, biochemical and EEG findings were available were included. There were 46 articles reporting on a total of 73 patients. Seizures occurred in only four out of 73 cases (5.5%). The semiology of these seizures were focal motor seizures with or without secondary generalisation and occipital lobe seizures. Imaging and electrographic findings were most commonly abnormal in the posterior cerebral cortices (in particular the occipital and occipito-parietal regions). This systematic review suggests that seizures are uncommon in HvCJD despite the frequency of imaging and electrographic abnormalities in the posterior cerebral regions. A key limitation of this systematic review is the variability of publications in terms of incomplete reporting of clinical data, in particular potential under-reporting of seizures, as well as follow up, which may have contributed to the lower frequency of seizures reported in patients with HvCJD.
Topics: Creutzfeldt-Jakob Syndrome; Electroencephalography; Female; Genetic Variation; Humans; Magnetic Resonance Imaging; Middle Aged; Occipital Lobe; Parietal Lobe; Seizures
PubMed: 33436304
DOI: 10.1016/j.jocn.2020.10.002 -
European Radiology Dec 2021To evaluate the diagnostic yield and performance of DWI in patients with sporadic CJD (sCJD). (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To evaluate the diagnostic yield and performance of DWI in patients with sporadic CJD (sCJD).
METHODS
A systematic literature search of the MEDLINE and EMBASE databases was performed, since their inception up to July 28, 2020. Pooled diagnostic yield of diffusion-weighted imaging was calculated using DerSimonian-Laird random-effects model. Pooled diagnostic performance of DWI (sensitivity, specificity, and area under the curve) in diagnosing sCJD among patients with rapidly progressive dementia was calculated using a bivariate random-effects model. Subgroup analysis and meta-regression were performed.
RESULTS
Fifteen original articles with a total of 1144 patients with sCJD were included. The pooled diagnostic yield was 91% (95% confidence interval [CI], 86 to 94%); summary sensitivity, 91% (95% CI, 84 to 95%); and specificity, 97% (95% CI, 94 to 99%). The area under the hierarchical summary receiver operating characteristic curve was 0.99 (95% CI, 0.97-0.99). Simultaneous involvement of the neocortex and striatum was the most common finding, and the neocortex was the most common site to be involved on DWI followed by striatum, thalamus, and cerebellum. Subgroup analysis and meta-regression demonstrated significant heterogeneity among the studies associated with the reference standards used for diagnosis of sCJD.
CONCLUSIONS
DWI showed excellent diagnostic value in diagnosis of sporadic Creutzfeldt-Jakob disease among patients with rapidly progressive dementia. Simultaneous involvement of the neocortex and striatum was the most common finding, and the neocortex was the most common site to be involved on diffusion-weighted imaging followed by striatum, thalamus, and cerebellum.
KEY POINTS
• The pooled diagnostic yield of diffusion-weighted imaging in sporadic Creutzfeldt-Jakob disease was 91%. • The diagnostic performance of diffusion-weighted imaging for predicting sporadic Creutzfeldt-Jakob disease among patients with rapidly progressive dementia was excellent, with pooled sensitivity, 91%, and specificity, 97%. • Simultaneous involvement in the neocortex and striatum was most commonly seen on diffusion-weighted imaging (60%), followed by the neocortex without striatum (30%), thalamus (21%), cerebellum (8%), and striatum without neocortex (7%).
Topics: Animals; Brain; Cattle; Creutzfeldt-Jakob Syndrome; Diffusion Magnetic Resonance Imaging; Encephalopathy, Bovine Spongiform; Humans; Magnetic Resonance Imaging; Thalamus
PubMed: 33982159
DOI: 10.1007/s00330-021-08031-4 -
The Cochrane Database of Systematic... Mar 2011Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD) are rare and always-fatal diseases transmissible via certain medical procedures. If a person is exposed to the... (Review)
Review
BACKGROUND
Creutzfeldt-Jakob disease (CJD) and variant CJD (vCJD) are rare and always-fatal diseases transmissible via certain medical procedures. If a person is exposed to the disease risk through medical treatment, they may need to be notified of this to prevent them passing the risk to others in healthcare settings and to enable additional infection control measures to be put in place for certain procedures. As CJD is incurable, and unable to be screened for or effectively treated, communicating this risk information after an exposure incident may have significant implications for the person at risk, their families/ carers and healthcare professionals. The best ways to notify people of their exposure to the risk of CJD or vCJD, and to support them subsequently, are currently unknown.
OBJECTIVES
To evaluate the effects of interventions to notify and support consumers (patients and their family members or carers) in situations where exposure to the risk of CJD or vCJD has occurred as a result of medical treatment (iatrogenically), on consumer, healthcare provider and healthcare system outcomes.
SEARCH STRATEGY
We searched the Cochrane Consumers and Communication Review Group Specialised Register (10 February, 2009), the Cochrane Central Register of Controlled Trials (CENTRAL, The Cochrane Library, Issue 1 2009), MEDLINE (OVID SP), EMBASE (OVID SP), PsycINFO (OVID SP), CINAHL (EBSCO Host), Current Contents (OVID SP) and Dissertation Abstracts (Proquest) from start date to February 2009. We searched MEDLINE In-process and Other Non-indexed Citations (OVID SP) and Sociological Abstracts (CSA) in November 2009. We searched reference lists, websites, and contacted consumer groups and experts for details of relevant research.
SELECTION CRITERIA
Randomised and quasi-randomised controlled studies, controlled before-and-after studies and interrupted time series analyses assessing the effects of any intervention to communicate with (notify or support) people exposed to the risk of CJD or vCJD through medical treatment were included. We sought outcomes relevant to consumers, health providers and health services, including both benefits and harms.
DATA COLLECTION AND ANALYSIS
Cochrane reviewTwo authors independently assessed studies for inclusion against selection criteria, and would have applied standard Cochrane review methodology were any studies identified.Thematic synthesisWe also conducted a thematic synthesis by systematically identifying and screening those studies that met the same population, intervention and outcome criteria as the Cochrane review, but that were identified from the broader literature providing evidence on policy implementation and consumer experiences. We systematically extracted and synthesised the data from these studies to produce a thematic synthesis, presented in appendices to this Cochrane review, which assembles evidence on the views, experiences and acceptability of notification and support strategies for people at risk.
MAIN RESULTS
Results of the Cochrane reviewNo studies meeting the study design criteria were identified for inclusion in this Cochrane review.Results of thematic synthesisIn total, 49 studies and pieces of literature meeting the same population, intervention and outcome criteria as the Cochrane review, but identified from the broader literature providing evidence on policy implementation and consumer experiences, were included and formed the basis of a thematic synthesis, and which is presented in appendices to this Cochrane review. The thematic synthesis indicates that ideally communication may be considered as a longitudinal multicomponent programme, ensuring that notification and support are coordinated; that communication is tailored and responsive to need; and that activities to support individual risk communication, such as widespread education and monitoring of access to health care for those at risk, are in place. The thematic synthesis also indicates that poor communication practices may have negative impacts or cause harm, such as discrimination in accessing health care.
AUTHORS' CONCLUSIONS
There is insufficient rigorous evidence to determine the effects of interventions to notify people at CJD or vCJD risk and to support them subsequently, or to identify the best approach to communication in these situations. The thematic synthesis can be used to inform policy and practice decisions for communicating with people at risk in the absence of rigorous evaluative studies.
Topics: Creutzfeldt-Jakob Syndrome; Disease Notification; Humans; Iatrogenic Disease; Prion Diseases
PubMed: 21412905
DOI: 10.1002/14651858.CD007578.pub2 -
BMC Veterinary Research Aug 2016Chronic wasting disease (CWD) is a contagious, fatal prion disease affecting cervids in a growing number of regions across North America. Projected deer population... (Review)
Review
BACKGROUND
Chronic wasting disease (CWD) is a contagious, fatal prion disease affecting cervids in a growing number of regions across North America. Projected deer population declines and concern about potential spread of CWD to other species warrant strategies to manage this disease. Control efforts to date have been largely unsuccessful, resulting in continuing spread and increasing prevalence. This systematic review summarizes peer-reviewed published reports describing field-applicable CWD control strategies in wild deer populations in North America using systematic review methods. Ten databases were searched for peer-reviewed literature. Following deduplication, relevance screening, full-text appraisal, subject matter expert review and qualitative data extraction, nine references were included describing four distinct management strategies.
RESULTS
Six of the nine studies used predictive modeling to evaluate control strategies. All six demonstrated one or more interventions to be effective but results were dependant on parameters and assumptions used in the model. Three found preferential removal of CWD infected deer to be effective in reducing CWD prevalence; one model evaluated a test and slaughter strategy, the other selective removal of infected deer by predators and the third evaluated increased harvest of the sex with highest prevalence (males). Three models evaluated non-selective harvest of deer. There were only three reports that examined primary data collected as part of observational studies. Two of these studies supported the effectiveness of intensive non-selective culling; the third study did not find a difference between areas that were subjected to culling and those that were not. Seven of the nine studies were conducted in the United States.
CONCLUSIONS
This review highlights the paucity of evaluated, field-applicable control strategies for CWD in wild deer populations. Knowledge gaps in the complex epidemiology of CWD and the intricacies inherent to prion diseases currently pose significant challenges to effective control of this disease in wild deer in North America.
Topics: Animals; Deer; Disease Management; North America; Periodicals as Topic; Research; Wasting Disease, Chronic
PubMed: 27549119
DOI: 10.1186/s12917-016-0804-7 -
Movement Disorders : Official Journal... Jul 2017Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes. (Review)
Review
BACKGROUND
Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes.
OBJECTIVE
To identify clinical features and investigations that predict or exclude PSP pathology during life, aiming at an optimization of the clinical diagnostic criteria for PSP.
METHODS
We performed a systematic review of the literature published since 1996 to identify clinical features and investigations that may predict or exclude PSP pathology. We then extracted standardized data from clinical charts of patients with pathologically diagnosed PSP and relevant disease controls and calculated the sensitivity, specificity, and positive predictive value of key clinical features for PSP in this cohort.
RESULTS
Of 4166 articles identified by the database inquiry, 269 met predefined standards. The literature review identified clinical features predictive of PSP, including features of the following 4 functional domains: ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction. No biomarker or genetic feature was found reliably validated to predict definite PSP. High-quality original natural history data were available from 206 patients with pathologically diagnosed PSP and from 231 pathologically diagnosed disease controls (54 corticobasal degeneration, 51 multiple system atrophy with predominant parkinsonism, 53 Parkinson's disease, 73 behavioral variant frontotemporal dementia). We identified clinical features that predicted PSP pathology, including phenotypes other than Richardson's syndrome, with varying sensitivity and specificity.
CONCLUSIONS
Our results highlight the clinical variability of PSP and the high prevalence of phenotypes other than Richardson's syndrome. The features of variant phenotypes with high specificity and sensitivity should serve to optimize clinical diagnosis of PSP. © 2017 International Parkinson and Movement Disorder Society.
Topics: Humans; Supranuclear Palsy, Progressive
PubMed: 28500752
DOI: 10.1002/mds.27034 -
Transboundary and Emerging Diseases Feb 2018A number of prion diseases affect humans, including Creutzfeldt-Jakob disease; most of these are due to genetic mutations in the affected individual and occur... (Review)
Review
A number of prion diseases affect humans, including Creutzfeldt-Jakob disease; most of these are due to genetic mutations in the affected individual and occur sporadically, but some result from transmission of prion proteins from external sources. Of the known animal prion diseases, only bovine spongiform encephalopathy prions have been shown to be transmissible from animals to humans under non-experimental conditions. Chronic wasting disease (CWD) is a prion disease that affects cervids (e.g., deer and elk) in North America and isolated populations in Korea and Europe. Systematic review methodology was used to identify, select, critically appraise and analyse data from relevant research. Studies were evaluated for adherence to good conduct based on their study design following the Cochrane collaboration's approach to grading the quality of evidence and the strength of recommendations (GRADE). Twenty-three studies were included after screening 800 citations from the literature search and evaluating 78 full papers. Studies examined the transmissibility of CWD prions to humans using epidemiological study design, in vitro and in vivo experiments. Five epidemiological studies, two studies on macaques and seven studies on humanized transgenic mice provided no evidence to support the possibility of transmission of CWD prions to humans. Ongoing surveillance in the United States and Canada has not documented CWD transmission to humans. However, two studies on squirrel monkeys provided evidence that transmission of CWD prions resulting in prion disease is possible in these monkeys under experimental conditions and seven in vitro experiments provided evidence that CWD prions can convert human prion protein to a misfolded state. Therefore, future discovery of CWD transmission to humans cannot be entirely ruled out on the basis of current studies, particularly in the light of possible decades-long incubation periods for CWD prions in humans. It would be prudent to continue CWD research and epidemiologic surveillance, exercise caution when handling potentially contaminated material and explore CWD management opportunities.
Topics: Animals; Canada; Cattle; Deer; Europe; Humans; Mice; Mice, Transgenic; North America; Prions; Republic of Korea; Wasting Disease, Chronic
PubMed: 28139079
DOI: 10.1111/tbed.12612 -
Brain : a Journal of Neurology Sep 2006Prion diseases are transmissible, invariably fatal, neurodegenerative diseases which include Creutzfeldt-Jakob disease (CJD) in humans and bovine spongiform... (Review)
Review
Prion diseases are transmissible, invariably fatal, neurodegenerative diseases which include Creutzfeldt-Jakob disease (CJD) in humans and bovine spongiform encephalopathy and scrapie in animals. A large number of putative treatments have been studied in experimental models over the past 30 years, with at best modest disease-modifying effects. The arrival of variant CJD in the UK in the 1990s has intensified the search for effective therapeutic agents, using an increasing number of animal, cellular and in vitro models with some recent promising proof of principle studies. Here, for the first time, we present a comprehensive systematic, rather than selective, review of published data on experimental approaches to prion therapeutics to provide a scientific resource for informing future therapeutics research, both in laboratory models and in clinical studies.
Topics: Animals; Anti-Bacterial Agents; Anticoagulants; Antimalarials; Antiviral Agents; Cattle; Congo Red; Creutzfeldt-Jakob Syndrome; Disease Models, Animal; Encephalopathy, Bovine Spongiform; Glycosaminoglycans; Humans; Immunotherapy; Polyamines; PrPC Proteins; Prion Diseases; Tetracyclines
PubMed: 16816391
DOI: 10.1093/brain/awl150 -
Frontiers in Psychiatry 2021Previous studies have identified differentially expressed microRNAs in autism spectrum disorder (ASD), however, results are discrepant. We aimed to systematically...
Systematic Review and Bioinformatic Analysis of microRNA Expression in Autism Spectrum Disorder Identifies Pathways Associated With Cancer, Metabolism, Cell Signaling, and Cell Adhesion.
Previous studies have identified differentially expressed microRNAs in autism spectrum disorder (ASD), however, results are discrepant. We aimed to systematically review this topic and perform bioinformatic analysis to identify genes and pathways associated with ASD miRNAs. Following the Preferred Reporting Items for Systematic reviews and Meta-Analyses, we searched the Web of Science, PubMed, Embase, Scopus, and OVID databases to identify all studies comparing microRNA expressions between ASD persons and non-ASD controls on May 11, 2020. We obtained ASD miRNA targets validated by experimental assays from miRTarBase and performed pathway enrichment analysis using Metascape and DIANA-miRPath v3. 0. Thirty-four studies were included in the systematic review. Among 285 altered miRNAs reported in these studies, 15 were consistently upregulated, 14 were consistently downregulated, and 39 were inconsistently dysregulated. The most frequently altered miRNAs including miR-23a-3p, miR-106b-5p, miR-146a-5p, miR-7-5p, miR-27a-3p, miR-181b-5p, miR-486-3p, and miR-451a. Subgroup analysis of tissues showed that miR-146a-5p, miR-155-5p, miR-1277-3p, miR-21-3p, miR-106b-5p, and miR-451a were consistently upregulated in brain tissues, while miR-4742-3p was consistently downregulated; miR-23b-3p, miR-483-5p, and miR-23a-3p were consistently upregulated in blood samples, while miR-15a-5p, miR-193a-5p, miR-20a-5p, miR-574-3p, miR-92a-3p, miR-3135a, and miR-103a-3p were consistently downregulated; miR-7-5p was consistently upregulated in saliva, miR-23a-3p and miR-32-5p were consistently downregulated. The altered ASD miRNAs identified in at least two independent studies were validated to target many autism risk genes. , and were the most frequent targets, and miR-92a-3p had the most target autism risk genes. Pathway enrichment analysis showed that ASD miRNAs are significantly involved in pathways associated with cancer, metabolism (notably Steroid biosynthesis, Fatty acid metabolism, Fatty acid biosynthesis, Lysine degradation, Biotin metabolism), cell cycle, cell signaling (especially Hippo, FoxO, TGF-beta, p53, Thyroid hormone, and Estrogen signaling pathway), adherens junction, extracellular matrix-receptor interaction, and Prion diseases. Altered miRNAs in ASD target autism risk genes and are involved in various ASD-related pathways, some of which are understudied and require further investigation.
PubMed: 34744804
DOI: 10.3389/fpsyt.2021.630876