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Find video protocols related to scientific articles indexed in Pubmed.
Genetics of vasculitis.
Curr Opin Rheumatol
PUBLISHED: 11-19-2014
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We aim to give an overview of the recent progress in the knowledge of the genetic component of vasculitides.
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HLA-DRA variants predict penicillin allergy in genome-wide fine-mapping genotyping.
J. Allergy Clin. Immunol.
PUBLISHED: 03-12-2014
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Immediate reactions to ?-lactams are the most common causes of anaphylactic reactions and can be life-threatening. The few known genetic factors influencing these reactions suggest a link with atopy and inflammation.
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Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.
Am. J. Hum. Genet.
PUBLISHED: 01-07-2014
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In this study, 1,833 systemic sclerosis (SSc) cases and 3,466 controls were genotyped with the Immunochip array. Classical alleles, amino acid residues, and SNPs across the human leukocyte antigen (HLA) region were imputed and tested. These analyses resulted in a model composed of six polymorphic amino acid positions and seven SNPs that explained the observed significant associations in the region. In addition, a replication step comprising 4,017 SSc cases and 5,935 controls was carried out for several selected non-HLA variants, reaching a total of 5,850 cases and 9,401 controls of European ancestry. Following this strategy, we identified and validated three SSc risk loci, including DNASE1L3 at 3p14, the SCHIP1-IL12A locus at 3q25, and ATG5 at 6q21, as well as a suggested association of the TREH-DDX6 locus at 11q23. The associations of several previously reported SSc risk loci were validated and further refined, and the observed peak of association in PXK was related to DNASE1L3. Our study has increased the number of known genetic associations with SSc, provided further insight into the pleiotropic effects of shared autoimmune risk factors, and highlighted the power of dense mapping for detecting previously overlooked susceptibility loci.
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[Respiratory symptoms caused by the use of electrocautery in physicians being trained in surgery in a Mexican hospital].
Rev Peru Med Exp Salud Publica
PUBLISHED: 11-12-2013
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In order to determine the frequency of respiratory symptoms among residents from surgical specialties dures exposed to the electrocautery smoke, a cross-sectional study was conducted in February 2012. 50 third-year residents from different surgical specialties coming from a third-level hospital belonging to the Institute of Security and Social Services of the State Workers in Jalisco, Mexico, were included. The subject selection was non-probabilistic. A questionnaire on respiratory symptoms developed in Cuba was used for data collection. The most common symptoms were sensation of a lump in the throat (58%), and a sore throat (22%). The specialty with the highest rate of exposure was neurosurgery (24.1 min/surgical procedure). All, the physicians from this specialty had respiratory symptoms. We conclude that the cauterization smoke may be considered a risk for developing respiratory symptoms among physicians with surgical specialties.
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Genetic component of giant cell arteritis.
Rheumatology (Oxford)
PUBLISHED: 07-10-2013
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Important steps forwards have been taken during recent years towards the understanding of the genetic basis of autoimmunity. The increasing number of study cohorts is allowing better characterization of the genetic component of most autoimmune diseases. However, the molecular mechanisms leading to some less common diseases remain poorly understood. GCA, an antigen-driven systemic vasculitis affecting medium and large blood vessels of elderly people, represents one of these cases. However, although underpowered to detect low to moderate effect sizes and without replication steps, many genetic studies on this disease have been published in the past decade. These reports clearly point to genes located in the MHC region, in particular HLA-DRB1*04 alleles, and other key members of the immune and inflammatory response (including cytokines, adhesion molecules and regulators of innate immunity), as crucial players in the development and progression of GCA. Considering that no literature review has been published so far about the genetic component of this vasculitis, we aimed to summarize here the current knowledge on the genetics underlying GCA predisposition and severity.
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New insight on the Xq28 association with systemic sclerosis.
Ann. Rheum. Dis.
PUBLISHED: 02-26-2013
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To evaluate whether the systemic sclerosis (SSc)-associated IRAK1 non-synonymous single-nucleotide polymorphism rs1059702 is responsible for the Xq28 association with SSc or whether there are other independent signals in the nearby methyl-CpG-binding protein 2 gene (MECP2).
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The systemic lupus erythematosus IRF5 risk haplotype is associated with systemic sclerosis.
PLoS ONE
PUBLISHED: 01-23-2013
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Systemic sclerosis (SSc) is a fibrotic autoimmune disease in which the genetic component plays an important role. One of the strongest SSc association signals outside the human leukocyte antigen (HLA) region corresponds to interferon (IFN) regulatory factor 5 (IRF5), a major regulator of the type I IFN pathway. In this study we aimed to evaluate whether three different haplotypic blocks within this locus, which have been shown to alter the protein function influencing systemic lupus erythematosus (SLE) susceptibility, are involved in SSc susceptibility and clinical phenotypes. For that purpose, we genotyped one representative single-nucleotide polymorphism (SNP) of each block (rs10488631, rs2004640, and rs4728142) in a total of 3,361 SSc patients and 4,012 unaffected controls of Caucasian origin from Spain, Germany, The Netherlands, Italy and United Kingdom. A meta-analysis of the allele frequencies was performed to analyse the overall effect of these IRF5 genetic variants on SSc. Allelic combination and dependency tests were also carried out. The three SNPs showed strong associations with the global disease (rs4728142: P ?=?1.34×10(-8), OR ?=?1.22, CI 95% ?=?1.14-1.30; rs2004640: P ?=?4.60×10(-7), OR ?=?0.84, CI 95% ?=?0.78-0.90; rs10488631: P ?=?7.53×10(-20), OR ?=?1.63, CI 95% ?=?1.47-1.81). However, the association of rs2004640 with SSc was not independent of rs4728142 (conditioned P ?=?0.598). The haplotype containing the risk alleles (rs4728142*A-rs2004640*T-rs10488631*C: P ?=?9.04×10(-22), OR ?=?1.75, CI 95% ?=?1.56-1.97) better explained the observed association (likelihood P-value ?=?1.48×10(-4)), suggesting an additive effect of the three haplotypic blocks. No statistical significance was observed in the comparisons amongst SSc patients with and without the main clinical characteristics. Our data clearly indicate that the SLE risk haplotype also influences SSc predisposition, and that this association is not sub-phenotype-specific.
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Novel identification of the IRF7 region as an anticentromere autoantibody propensity locus in systemic sclerosis.
Ann. Rheum. Dis.
PUBLISHED: 09-16-2011
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Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are related chronic autoimmune diseases of complex aetiology in which the interferon (IFN) pathway plays a key role. Recent studies have reported an association between IRF7 and SLE which confers a risk to autoantibody production. A study was undertaken to investigate whether the IRF7 genomic region is also involved in susceptibility to SSc and the main clinical features.
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Role of the CCR5/?32CCR5 polymorphism in biopsy-proven giant cell arteritis.
Hum. Immunol.
PUBLISHED: 01-28-2011
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To further explore the potential role of chemokines in giant cell arteritis (GCA), we have studied whether the CCR5/?32CCR5 polymorphism is implicated in the susceptibility to the disease and its specific features. A total of 352 Spanish patients with biopsy-proven GCA and 479 matched controls were assessed. DNA was obtained from peripheral blood. Samples were genotyped by PCR with specific primers spanning the 32-bp deletion region. No statistically significant difference in the ?32CCR5 allele frequency between GCA patients (6.1%) and controls (6.8%) was observed (p = 0.58). This was also the case when the CCR5 /?32CCR5 genotype distribution was assessed (p = 0.49). The ?32CCR5 allele frequency did not differ between patients with or without specific manifestations of the disease, such as polymyalgia rheumatica, visual ischemic manifestations, or irreversible occlusive disease. Hence, our results do not support a potential influence of ?32CCR5 in the susceptibility to or clinical spectrum of GCA.
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Development of the cornea of true moles (Talpidae): morphogenesis and expression of PAX6 and cytokeratins.
J. Anat.
PUBLISHED: 10-29-2010
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Corneal development and structure were studied in the Iberian mole Talpa occidentalis, which has permanently closed eyelids, and the European mole Talpa europaea, in which the eyes are open. The vertebrate cornea typically maintains a three-layered structure - a stratified epithelium with protective and sensory function, an avascular, hypocellular, collagenous stroma, and an endothelium with both barrier and transport functions that regulates corneal hydration, hence maintaining transparency. Compared to mouse, both mole species had significant corneal specializations, but the Iberian mole had the most divergent phenotype, with no endothelium and a flattened monolayer epithelium. Nevertheless, normal epithelial cell junctions were observed and corneal transparency was maintained. Corneas of European moles have a dysmorphic phenotype that recapitulates the human disorder keratoconus for which no mouse model exists. Mole corneas are vascularized - a situation only previously observed in the manatee Trichechus- and have non-radial patterns of corneal innervation indicative of failure of corneal epithelial cell migration. The transcription factor Pax6 is required for corneal epithelial differentiation in mice, but was found to be dispensable in moles, which had mosaic patterns of PAX6 localization uniquely restricted, in European moles, to the apical epithelial cells. The apparently stalled or abnormal differentiation of corneas in adult moles is supported by their superficial similarity to the corneas of embryonic or neonatal mice, and their abnormal expression of cytokeratin-12 and cytokeratin-5. European moles seem to have maintained some barrier/protective function in their corneas. However, Iberian moles show a more significant corneal regression likely related to the permanent eyelid fusion. In this mole species, adaptation to the arid, harder, Southern European soils could have favoured the transfer of these functions to the permanently sealed eyelids.
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Retinal development and function in a blind mole.
Proc. Biol. Sci.
PUBLISHED: 12-09-2009
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Animals adapted to dark ecotopes may experience selective pressure for retinal reduction. No previous studies have explicitly addressed the molecular basis of retinal development in any fossorial mammal. We studied retinal development and function in the Iberian mole Talpa occidentalis, which was presumed to be blind because of its permanently closed eyes. Prenatal retina development was relatively normal, with specification of all cell types and evidence of dorsoventral regionalization. Severe developmental defects occurred after birth, subsequent to lens abnormalities. Blind Iberian moles had rods, cones and rod nuclear ultrastructure typical of diurnal mammals. DiI staining revealed only contralateral projections through the optic chiasm. Y-maze experiments demonstrated that moles retain a photoavoidance response. Over-representation of melanopsin-positive retinal ganglion cells that mediate photoperiodicity was observed. Hence, molecular pathways of eye development in Iberian moles retain the adaptive function of rod/cone primary vision and photoperiodicity, with no evidence that moles are likely to completely lose their eyes on an evolutionary time scale.
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Evolution of visual performance in 250 eyes implanted with the Tecnis ZM900 multifocal IOL.
Eur J Ophthalmol
PUBLISHED: 09-30-2009
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To evaluate visual performance in relation to time after implantation of the multifocal Tecnis intraocular lens (IOL) in patients with cataract.
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SOX9 is not required for the cellular events of testicular organogenesis in XX mole ovotestes.
J. Exp. Zool. B Mol. Dev. Evol.
PUBLISHED: 04-22-2009
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Mammalian sex determination is the genetic process that commits the undifferentiated bipotential gonads to develop as either testes or ovaries. The differentiation of SOX9-expressing Sertoli cells is assumed to be necessary to initiate testis development. Insectivorous moles of the genus Talpa represent a unique case of generalized true hermaphroditism, as XX female moles constitutively develop two ovotestes instead of normal ovaries. In this work, we have investigated the expression patterns of a number of genes known to play key roles in gonad organogenesis, throughout the entire process of ovotestis development in female moles. Molecular and morphological evidence are provided that these ovotestes contain primary medullary testis-like cords, Leydig cells, peritubular myoid cells, and a testis-specific vasculature, but no Sertoli cells. Our results show for the first time that SOX9 is not required for the formation of the primary testis cords, but it is necessary for the maintenance and subsequent development of these cords. In addition, the expression pattern of WNT4 in male and female moles indicates that this gene inhibits Leydig cell differentiation and, contrary to the proposed scenario in the mouse, it is not required for the colonization and survival of primordial germ cells. According to our data, mole ovotestes result from a process of PDGFRalpha-mediated mesonephric cell migration, which occurs simultaneously in both sexes. The fact that FST remains inactive during the critical stages of female gonad development, explains the lack of migration inhibition, and may be a consequence of improper WNT4 signalling in the mole.
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Evaluation of image quality after implantation of 2 diffractive multifocal intraocular lens models.
J Cataract Refract Surg
PUBLISHED: 02-10-2009
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To compare the visual quality after implantation of multifocal intraocular lenses (IOLs).
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Evaluation of a shared autoimmune disease-associated polymorphism of TRAF6 in systemic sclerosis and giant cell arteritis.
J. Rheumatol.
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We evaluated whether a single-nucleotide polymorphism (SNP) of the TRAF6 gene previously associated with systemic lupus erythematosus and rheumatoid arthritis may be a common risk factor for systemic sclerosis (SSc) and giant cell arteritis (GCA).
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Evolution of visual performance in 70 eyes implanted with the Tecnis(®) ZMB00 multifocal intraocular lens.
Clin Ophthalmol
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To evaluate the development of visual acuity, dysphotopsia phenomena, and subjective sensations in patients implanted with the Tecnis(®) ZMB00 (Advanced Medical Optics Inc, Santa Ana, CA) multifocal intraocular lens.
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Autoimmune disease-associated CD226 gene variants are not involved in giant cell arteritis susceptibility in the Spanish population.
Clin. Exp. Rheumatol.
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CD226 genetic variants have been associated with a number of autoimmune diseases. The aim of this study was to investigate the potential implication of the CD226 loci in the susceptibility to and main clinical manifestations of giant cell arteritis (GCA).
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Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.
Hum. Mol. Genet.
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Systemic sclerosis (SSc) is complex autoimmune disease affecting the connective tissue; influenced by genetic and environmental components. Recently, we performed the first successful genome-wide association study (GWAS) of SSc. Here, we perform a large replication study to better dissect the genetic component of SSc. We selected 768 polymorphisms from the previous GWAS and genotyped them in seven replication cohorts from Europe. Overall significance was calculated for replicated significant SNPs by meta-analysis of the replication cohorts and replication-GWAS cohorts (3237 cases and 6097 controls). Six SNPs in regions not previously associated with SSc were selected for validation in another five independent cohorts, up to a total of 5270 SSc patients and 8326 controls. We found evidence for replication and overall genome-wide significance for one novel SSc genetic risk locus: CSK [P-value = 5.04 × 10(-12), odds ratio (OR) = 1.20]. Additionally, we found suggestive association in the loci PSD3 (P-value = 3.18 × 10(-7), OR = 1.36) and NFKB1 (P-value = 1.03 × 10(-6), OR = 1.14). Additionally, we strengthened the evidence for previously confirmed associations. This study significantly increases the number of known putative genetic risk factors for SSc, including the genes CSK, PSD3 and NFKB1, and further confirms six previously described ones.
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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.

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

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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.