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Find video protocols related to scientific articles indexed in Pubmed.
National survey of UK medical students on the perception of neurology.
BMC Med Educ
PUBLISHED: 03-27-2014
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Medical students perceive neurology to be a difficult subject, a phenomenon described as "neurophobia". Studies investigating student attitudes towards neurology have so far been limited by small sample sizes as a consequence of being conducted within a single medical school or region. We aimed to conduct the first national survey of the perception of neurology among UK medical students.
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DNase hypersensitive sites and association with multiple sclerosis.
Hum. Mol. Genet.
PUBLISHED: 10-02-2013
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Genome-wide association studies (GWASs) have shown that approximately 60 genetic variants influence the risk of developing multiple sclerosis (MS). Our aim was to identify the cell types in which these variants are active. We used available data on MS-associated single nucleotide polymorphisms (SNPs) and deoxyribonuclease I hypersensitive sites (DHSs) from 112 different cell types. Genomic intervals were tested for overlap using the Genomic Hyperbrowser. The expression profile of the genes located nearby MS-associated SNPs was assessed using the software GRAIL (Gene Relationships Across Implicated Loci). Genomic regions associated with MS were significantly enriched for a number of immune DHSs and in particular T helper (Th) 1, Th17, CD8+ cytotoxic T cells, CD19+ B cells and CD56+ natural killer (NK) cells (enrichment = 2.34, 2.19, 2.27, 2.05 and 1.95, respectively; P < 0.0001 for all of them). Similar results were obtained when genomic regions with suggestive association with MS and additional immune-mediated traits were investigated. Several new candidate MS-associated genes located within regions of suggestive association were identified by GRAIL (CARD11, FCRL2, CHST12, SYK, TCF7, SOCS1, NFKBIZ and NPAS1). Genetic data indicate that Th1, Th17, cytotoxic T, B and NK cells play a prominent role in the etiology of MS. Regions with confirmed and suggestive association have a similar immunological profile, indicating that many SNPs truly influencing the risk of MS actually fail to reach genome-wide significance. Finally, similar cell types are involved in the etiology of other immune-mediated diseases.
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Integrating multiple oestrogen receptor alpha ChIP studies: overlap with disease susceptibility regions, DNase I hypersensitivity peaks and gene expression.
BMC Med Genomics
PUBLISHED: 05-31-2013
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A wealth of nuclear receptor binding data has been generated by the application of chromatin immunoprecipitation (ChIP) techniques. However, there have been relatively few attempts to apply these datasets to human complex disease or traits.
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Next-generation sequencing in understanding complex neurological disease.
Expert Rev Neurother
PUBLISHED: 02-02-2013
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Next-generation sequencing techniques have made vast quantities of data on human genomes and transcriptomes available to researchers. Huge progress has been made towards understanding the basis of many Mendelian neurological conditions, but progress has been considerably slower in complex neurological diseases (multiple sclerosis, migraine, Alzheimers disease, Parkinsons disease, amyotrophic lateral sclerosis, and so on). The authors review current next-generation sequencing methodologies and present selected studies illustrating how these have been used to cast light on the genetic etiology of complex neurological diseases with specific focus on multiple sclerosis. The authors highlight particular pitfalls in next-generation sequencing experiments and speculate on both clinical and research applications of these sequencing platforms for complex neurological disorders in the future.
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Vitamin D receptor ChIP-seq in primary CD4+ cells: relationship to serum 25-hydroxyvitamin D levels and autoimmune disease.
BMC Med
PUBLISHED: 01-08-2013
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Vitamin D insufficiency has been implicated in autoimmunity. ChIP-seq experiments using immune cell lines have shown that vitamin D receptor (VDR) binding sites are enriched near regions of the genome associated with autoimmune diseases. We aimed to investigate VDR binding in primary CD4+ cells from healthy volunteers.
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Rare variants in the CYP27B1 gene are associated with multiple sclerosis.
Ann. Neurol.
PUBLISHED: 12-23-2011
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Multiple sclerosis (MS) is a complex neurological disease. Genetic linkage analysis and genotyping of candidate genes in families with 4 or more affected individuals more heavily loaded for susceptibility genes has not fully explained familial disease clustering.
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Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis.
Eur. J. Hum. Genet.
PUBLISHED: 11-16-2011
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Genome-wide association studies (GWAS), although efficient to detect genes involved in complex diseases, are not designed to measure the real effect of the genes. This is illustrated here by the example of IL2RA in multiple sclerosis (MS). Association between IL2RA and MS is clearly established, although the functional variation is still unknown: the effect of IL2RA might be better described by several SNPs than by a single one. This study investigates whether a pair of SNPs better explains the observed linkage and association data than a single SNP. In total, 522 trio families and 244 affected sib-pairs were typed for 26 IL2RA SNPs. For each SNP and pairs of SNPs, the phased genotypes of patients and controls were compared to determine the SNP set offering the best risk discrimination. Consistency between the genotype risks provided by the retained set and the identical by descent allele sharing in affected sib-pairs was assessed. After controlling for multiple testing, the set of SNPs rs2256774 and rs3118470, provides the best discrimination between the case and control genotype distributions (P-corrected=0.009). The relative risk between the least and most at-risk genotypes is 3.54 with a 95% confidence interval of [2.14-5.94]. Furthermore, the linkage information provided by the allele sharing between affected sibs is consistent with the retained set (P=0.80) but rejects the SNP reported in the literature (P=0.006). Establishing a valid modeling of a disease gene is essential to test its potential interaction with other genes and to reconstruct the pathophysiological pathways.
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Epigenetic mechanisms in multiple sclerosis and the major histocompatibility complex (MHC).
Discov Med
PUBLISHED: 03-31-2011
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Multiple sclerosis (MS) is a complex disorder of the central nervous system characterized by demyelination, axonal loss, and inflammation. The cause of MS is currently unknown although genetic and environmental factors contribute to etiology. The relative importance of each has been disputed; however, now it is clear that much of the disease results from the interaction of the environment and the genetics. Epigenetic modifications within the major histocompatibility complex (MHC) likely mediate interactions at this locus with current known environmental risk factors--vitamin D, Epstein-Barr virus, and smoking. Maternal parent-of-origin effects, month of birth effects and transgenerational differences in allele frequency are also evident in MS and may be mediated by sex-specific epigenetic mechanisms. Differences in epigenetic marks characterize monozygotic twin pairs and may explain discordance. There is promise of potential therapeutic strategies to be found in the epigenetic mechanisms at work in MS.
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Of mice and men: experimental autoimmune encephalitis and multiple sclerosis.
Eur. J. Clin. Invest.
PUBLISHED: 03-21-2011
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Research using experimental autoimmune encephalitis (EAE) models accounts for almost 20% of the papers. published in multiple sclerosis (MS).
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Season of birth and anorexia nervosa.
Br J Psychiatry
PUBLISHED: 03-17-2011
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Our aim was to investigate whether there is a season-of-birth effect in anorexia nervosa. In a meta-analysis, we compared the distribution of anorexia births (n = 1293) from four independent UK cohorts to that of the general UK population (n = 21 914 037), using both the Walter & Elwood seasonality and chi-squared tests. We found an excess of anorexia births from March to June (odds ratio (OR) = 1.15, 95% CI 1.03-1.29, P = 0.012) and a deficit from September to October (OR = 0.8, 95% CI 0.68-0.94, P = 0.007). These results indicate that environmental risk factor(s) are operative during gestation or immediately after birth and their identification will be important for disease prevention strategies.
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Smoking and multiple sclerosis: an updated meta-analysis.
PLoS ONE
PUBLISHED: 01-13-2011
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Multiple sclerosis (MS) is a leading cause of disability in young adults. Susceptibility to MS is determined by environmental exposure on the background of genetic risk factors. A previous meta-analysis suggested that smoking was an important risk factor for MS but many other studies have been published since then.
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Risk of venous thromboembolism in people admitted to hospital with selected immune-mediated diseases: record-linkage study.
BMC Med
PUBLISHED: 01-10-2011
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Venous thromboembolism (VTE) is a common complication during and after a hospital admission. Although it is mainly considered a complication of surgery, it often occurs in people who have not undergone surgery, with recent evidence suggesting that immune-mediated diseases may play a role in VTE risk. We, therefore, decided to study the risk of deep vein thrombosis (DVT) and pulmonary embolism (PE) in people admitted to hospital with a range of immune-mediated diseases.
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Geography of hospital admissions for multiple sclerosis in England and comparison with the geography of hospital admissions for infectious mononucleosis: a descriptive study.
J. Neurol. Neurosurg. Psychiatr.
PUBLISHED: 01-06-2011
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It is well recognised that variation in the geographical distribution of multiple sclerosis (MS) exists. Early studies in England have shown the disease to have been more common in the North than the South. However, this could be an artefact of inaccurate diagnosis and ascertainment, and recent data on MS prevalence are lacking. In the present study, data were analysed to provide a more contemporary map of the distribution of MS in England and, as infectious mononucleosis (IM) has been shown to be associated with the risk of MS, the geographical distribution of IM with that of MS was compared.
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The epidemiology of multiple sclerosis in Scotland: inferences from hospital admissions.
PLoS ONE
PUBLISHED: 01-02-2011
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Multiple sclerosis (MS) is a neurological disorder with a highly characteristic disease distribution. Prevalence and incidence in general increase with increasing distance from the equator. Similarly the female to male sex ratio increases with increasing latitude. Multiple possible risk factors have been hypothesised for this epidemiological trend, including human leukocyte antigen allele frequencies, ultraviolet exposure and subsequent vitamin D levels, smoking and Epstein-Barr virus. In this study we undertook a study of medical records across Scotland on an NHS health board level of resolution to examine the epidemiology of MS in this region.
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Seasonality of admissions with multiple sclerosis in Scotland.
Eur. J. Neurol.
PUBLISHED: 12-29-2010
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? Previous studies have described a seasonal pattern of MS relapse risk. Vitamin D and infectious triggers are two major candidate environmental risk factors proposed to account for this effect. We aimed to assess MS admissions in Scotland for a possible effect of seasonality.
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Heterogeneity in multiple sclerosis: scratching the surface of a complex disease.
Autoimmune Dis
PUBLISHED: 09-08-2010
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Multiple Sclerosis (MS) is the most common demyelinating disease of the central nervous system. Although the etiology and the pathogenesis of MS has been extensively investigated, no single pathway, reliable biomarker, diagnostic test, or specific treatment have yet been identified for all MS patients. One of the reasons behind this failure is likely to be the wide heterogeneity observed within the MS population. The clinical course of MS is highly variable and includes several subcategories and variants. Moreover, apart from the well-established association with the HLA-class II DRB1*15:01 allele, other genetic variants have been shown to vary significantly across different populations and individuals. Finally both pathological and immunological studies suggest that different pathways may be active in different MS patients. We conclude that these "MS subtypes" should still be considered as part of the same disease but hypothesize that spatiotemporal effects of genetic and environmental agents differentially influence MS course. These considerations are extremely relevant, as outcome prediction and personalised medicine represent the central aim of modern research.
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Contribution of genetic, epigenetic and transcriptomic differences to twin discordance in multiple sclerosis.
Expert Rev Neurother
PUBLISHED: 09-08-2010
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Evaluation of: Baranzini SE, Mudge J, van Velkinburgh JC et al. Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosis. Nature 464, 1351-1356 (2010). Multiple sclerosis (MS) is a chronic inflammatory disease of the CNS. Genetically identical (monozygotic) twins have a concordance rate for MS of approximately 30%, lending support to the notion that the disease has a complex etiology, developing as a result of genetic and environmental factors and their interactions. However, recent studies have highlighted the fact that monozygotic twins might not actually be genetically identical. In an effort to see if this can explain MS twin discordance, Baranzini and colleagues sequenced the genome from a pair of monozygotic twins discordant for MS, and also examined DNA methylation and gene expression across the genome in this twin pair and an additional two more twin pairs. No consistent differences in DNA sequence, DNA methylation or gene expression were found. Here we put these findings into context and discuss their significance.
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A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution.
Genome Res.
PUBLISHED: 08-24-2010
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Initially thought to play a restricted role in calcium homeostasis, the pleiotropic actions of vitamin D in biology and their clinical significance are only now becoming apparent. However, the mode of action of vitamin D, through its cognate nuclear vitamin D receptor (VDR), and its contribution to diverse disorders, remain poorly understood. We determined VDR binding throughout the human genome using chromatin immunoprecipitation followed by massively parallel DNA sequencing (ChIP-seq). After calcitriol stimulation, we identified 2776 genomic positions occupied by the VDR and 229 genes with significant changes in expression in response to vitamin D. VDR binding sites were significantly enriched near autoimmune and cancer associated genes identified from genome-wide association (GWA) studies. Notable genes with VDR binding included IRF8, associated with MS, and PTPN2 associated with Crohns disease and T1D. Furthermore, a number of single nucleotide polymorphism associations from GWA were located directly within VDR binding intervals, for example, rs13385731 associated with SLE and rs947474 associated with T1D. We also observed significant enrichment of VDR intervals within regions of positive selection among individuals of Asian and European descent. ChIP-seq determination of transcription factor binding, in combination with GWA data, provides a powerful approach to further understanding the molecular bases of complex diseases.
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An updated meta-analysis of risk of multiple sclerosis following infectious mononucleosis.
PLoS ONE
PUBLISHED: 05-19-2010
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Multiple sclerosis (MS) appears to develop in genetically susceptible individuals as a result of environmental exposures. Epstein-Barr virus (EBV) infection is an almost universal finding among individuals with MS. Symptomatic EBV infection as manifested by infectious mononucleosis (IM) has been shown in a previous meta-analysis to be associated with the risk of MS, however a number of much larger studies have since been published.
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The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.
PLoS ONE
PUBLISHED: 03-14-2010
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Multiple sclerosis (MS) is a complex neurological disorder. Its aetiology involves both environmental and genetic factors. Recent genome-wide association studies have identified a number of single nucleotide polymorphisms (SNPs) associated with susceptibility to (MS). We investigated whether these genetic variations were associated with alteration in gene expression.
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Is Lamarckian evolution relevant to medicine?
BMC Med. Genet.
PUBLISHED: 02-24-2010
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200 years have now passed since Darwin was born and scientists around the world are celebrating this important anniversary of the birth of an evolutionary visionary. However, the theories of his colleague Lamarck are treated with considerably less acclaim. These theories centre on the tendency for complexity to increase in organisms over time and the direct transmission of phenotypic traits from parents to offspring.
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Environmental factors and their timing in adult-onset multiple sclerosis.
Nat Rev Neurol
PUBLISHED: 02-16-2010
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Multiple sclerosis (MS) is a common, complex neurological disease. Epidemiological data implicate both genetic and environmental factors in the etiology of MS, with various factors interacting with one another. Environmental exposures might occur long before the disease becomes clinically evident, as suggested by the wide range in onset age. In this Review, we examine the key time periods during which the environment might contribute to MS susceptibility, as well as the potential environmental factors involved. Understanding the nature of environmental influences in MS is highly relevant to the development of public health measures that are aimed at preventing this debilitating disease.
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No evidence for an effect of DNA methylation on multiple sclerosis severity at HLA-DRB1*15 or HLA-DRB5.
J. Neuroimmunol.
PUBLISHED: 01-16-2010
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Multiple sclerosis (MS) is a complex neurological disease with huge variability in disease outcome. The majority of MS genetic susceptibility is determined by major histocompatibility complex (MHC) alleles, in particular haplotypes carrying HLA-DRB1*1501. HLA-DRB1*1501 also affects the clinical outcome of the disease and animal research has suggested that HLA-DRB5 interacts with HLA-DRB1*1501 to influence disease severity. We used an extremes-of-outcome design with 48 benign and 20 malignant MS patients to assess whether or not DNA methylation at HLA-DRB1*1501 and/or HLA-DRB5 also contributes to MS phenotypic heterogeneity. We found no significant effect of DNA methylation across HLA-DRB1*1501 and HLA-DRB5 on severity, although we cannot rule out time- or tissue-specific effects of DNA methylation.
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Type 1 diabetes mellitus and multiple sclerosis: common etiological features.
Nat Rev Endocrinol
PUBLISHED: 11-03-2009
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Type 1 diabetes mellitus and multiple sclerosis have been largely seen as different, organ-specific diseases, which are managed by different medical specialties. Research studies on these diseases have for the most part followed independent tracks. In this Review, we highlight the latest epidemiological and genetic findings, which have identified many features common to both disorders. Experts consider it increasingly likely that the environment contributes substantially to this overlap. However, although genetic elements that are distinct to each disease probably determine the ultimate form of autoimmunity that is manifested, strikingly broad parallels are seen between the components of genetic risk of type 1 diabetes mellitus and multiple sclerosis. Similarities and differences between these two diseases draw attention to shared disease pathways but insights into each disorder are providing mutual illumination of their pathogenesis.
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Epigenetics: molecular mechanisms and implications for disease.
Trends Mol Med
PUBLISHED: 07-06-2009
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Epigenetics is rising to prominence in biology as a mechanism by which environmental factors have intermediate-term effects on gene expression without changing the underlying genetic sequence. This can occur through the selective methylation of DNA bases and modification of histones. There are wide-ranging implications for the gene-environment debate and epigenetic mechanisms are causing a reevaluation of many traditional concepts such as heritability. The reversible nature of epigenetics also provides plausible treatment or prevention prospects for diseases previously thought hard-coded into the genome. Here, we consider how growing knowledge of epigenetics is altering our understanding of biology and medicine, and its implications for future research.
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Variants in ST8SIA1 do not play a major role in susceptibility to multiple sclerosis in Canadian families.
J. Neuroimmunol.
PUBLISHED: 02-21-2009
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Multiple sclerosis (MS) is a complex trait with a significant genetic component. Recent work has implicated the ST8SIA1 gene, encoding a ganglioside synthase, in susceptibility to the disease, perhaps with a parent-of-origin effect. In this investigation of 1318 MS patients from 756 Canadian families, we analysed the transmission of the four single nucleotide polymorphisms in ST8SIA previously shown to be associated with MS. No significant association was found in the entire sample or when stratifying by transmitting parent, indicating that this gene plays little or no role in susceptibility to MS in the Canadian population.
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Weekend admissions as an independent predictor of mortality: an analysis of Scottish hospital admissions.
BMJ Open
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Weekend admissions have been shown to be associated with an increased risk of mortality compared with weekday admissions for many diagnoses. We analysed emergency department admissions within the Scottish National Health Service to investigate whether mortality is increased in case of weekend emergency department admissions.
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Meta-analysis of the relationship between multiple sclerosis and migraine.
PLoS ONE
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Studies investigating a proposed association between multiple sclerosis (MS) and migraine have produced conflicting results and a great range in the prevalence rate of migraine in MS patients. By meta-analysing all available data we aimed to establish an overall estimate of any association in order to more accurately inform clinicians and care-givers about a potential association between MS and migraine.
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High reprint orders in medical journals and pharmaceutical industry funding: case-control study.
BMJ
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To assess the extent to which funding and study design are associated with high reprint orders.
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What is Visualize?

JoVE Visualize is a tool created to match the last 5 years of PubMed publications to methods in JoVE's video library.

How does it work?

We use abstracts found on PubMed and match them to JoVE videos to create a list of 10 to 30 related methods videos.

Video X seems to be unrelated to Abstract Y...

In developing our video relationships, we compare around 5 million PubMed articles to our library of over 4,500 methods videos. In some cases the language used in the PubMed abstracts makes matching that content to a JoVE video difficult. In other cases, there happens not to be any content in our video library that is relevant to the topic of a given abstract. In these cases, our algorithms are trying their best to display videos with relevant content, which can sometimes result in matched videos with only a slight relation.