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Find video protocols related to scientific articles indexed in Pubmed.
Hand Leading and Hand Taking Gestures in Autism and Typically Developing Children.
J Autism Dev Disord
PUBLISHED: 11-13-2014
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Children with autism use hand taking and hand leading gestures to interact with others. This is traditionally considered to be an example of atypical behaviour illustrating the lack of intersubjective understanding in autism. However the assumption that these gestures are atypical is based upon scarce empirical evidence. In this paper I present detailed observations in children with autism and typically developing children, suggesting that hand-leading gestures may be an adaptive form of interaction in typically developing children neglected by mainstream developmental psychology. I conclude that, although there may be features differentiating how these gestures are used in autism and typical children, systematic research on them is needed to clarify their nature and significance for both typical and atypical development.
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Albumin Leakage in Online Hemodiafiltration, More Convective Transport, More Losses?
Ther Apher Dial
PUBLISHED: 11-04-2014
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Online hemodiafiltration (OL-HDF) has now demonstrated some benefits in reducing mortality. It seems that rising convective volumes improve the outcomes, but the risks of it, such as albumin leakage, are not well defined yet. The aim of the present study was to evaluate the albumin leakage using two different filters with 20 and 30?L of post-dilution OL-HDF. In this cross-sectional study, 20 prevalent patients receiving post-dilution OL-HDL were included. We analyzed two dialyzers: FX1000, FMC and Polyflux 210H, Gambro. During four consecutive dialysis sessions, monitors were programmed using control-volume to obtain 20 or 30?L with both dialyzers. We collected albumin samples of the effluent at 5, 15, 30, 45 and 60?min and performed area under the curve (AUC) determinations for evaluating the losses. Mean patient age was 60?±?9 years, and 70% were men. Albumin leakage was significant higher with Polyflux 210H when compared to FX 1000 FMC. A convective volume of 30?L produced greater albumin leakage than 20?L with both filters, though only with the FX 1000 FMC was it significant (minimum albumin leakage during first hour with FX 1000 FMC 20?L: 79.2 [0.0-175.7] mg; 30 liters: 403.3 [63.5-960.7] mg; with PF 210 Gambro 20?L: 869.1 [420.0-3214.7] mg; 30?L: 1841.7 [443.8-3417.5] mg). During OL-HDF, convective transport causes albumin leakage at least during the first hour. The albumin concentration in the effluent differs according to the type of filter used and the convective volume.
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Mutation Analysis of the Main Hypertrophic Cardiomyopathy Genes Using Multiplex Amplification and Semiconductor Next-Generation Sequencing.
Circ. J.
PUBLISHED: 10-25-2014
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Background:Mutations in at least 30 genes have been linked to hypertrophic cardiomyopathy (HCM). Due to the large size of the main HCM genes, Sanger sequencing is labor intensive and expensive. The purpose was to develop a next-generation sequencing (NGS) procedure for the main HCM genes.Methods?and?Results:Multiplex amplification of the coding exons ofMYH7,MYBPC3,TNNT2,TNNI3,ACTC1,TNNC1,MYL2,MYL3, andTPM1was designated, followed by NGS with the Ion Torrent PGM (Life Technologies). A total of 8 pools containing DNA from HCM patients were sequenced in a 2-step approach. First, a total of 60 patients (validation cohort) underwent both PGM and Sanger sequencing for the 9 genes. No false-negative variants were found on NGS (100% sensitivity), and a specificity of 97% and 80% was achieved for single-nucleotide and insertion/deletion variants, respectively. Second, the PGM was used to search for mutations in a total of 76 cases not previously studied (discovery cohort). A total of 19 putative mutations were identified in the discovery pools, which were confirmed and assigned to specific patients on Sanger sequencing.Conclusions:An NGS procedure has been developed for the main sarcomeric genes that would facilitate the screening of large cohorts of patients. In addition, this procedure would facilitate the uncovering of rare gene variants on a population scale.
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Surgical Management of Trigeminal Neuralgia in Elderly Patients Using a Small Retrosigmoidal Approach: Analysis of Efficacy and Safety.
J Neurol Surg A Cent Eur Neurosurg
PUBLISHED: 10-12-2014
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Background?Trigeminal neuralgia is one of the most common causes of facial pain with the highest incidence in individuals?>?60 years old. Despite the proven efficacy and safety of microvascular decompression (MVD) for the treatment of trigeminal neuralgia, some physicians are reluctant to perform the procedure in elderly patients because of potential complications. Material and Methods?In the present study, we analyze the outcome of MVDs performed over a 10-year period in elderly patients and compare the results with those obtained in younger patients. A total of 32% of the patients were???65 years of age at the time of diagnosis. All of the patients were treated via a small retrosigmoidal approach because of reluctance for medical treatment. Overall, 87% of the patients exhibited microvascular compression of the fifth nerve in the root entry zone and were treated using MVD; the remainder of the patients were treated using a trigeminal root compression technique when a vessel was not compressing the fifth nerve. Results?After the procedure, 93% reported complete relief of pain with a recurrence rate of 10.8% over a mean time of 43 months. A total of 10% of the patients experienced severe complications related to the operation with no mortality. Conclusion?MVD continues to be the procedure of choice for the treatment of trigeminal neuralgia in patients reluctant to medical treatment, including elderly patients because age is not a contraindication.
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Evolution from microscopic transoral to endoscopic endonasal odontoidectomy.
Neurosurg Focus
PUBLISHED: 10-02-2014
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The goal of this study was to compare the indications, benefits, and complications between the endoscopic endonasal approach (EEA) and the microscopic transoral approach to perform an odontoidectomy. Transoral approaches have been standard for odontoidectomy procedures; however, the potential benefits of the EEA might be demonstrated to be a more innocuous technique. The authors present their experience with 12 consecutive cases that required odontoidectomy and posterior instrumentation.
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New Insights into Chloramphenicol Biosynthesis in Streptomyces venezuelae ATCC 10712.
Antimicrob. Agents Chemother.
PUBLISHED: 09-29-2014
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Comparative genome analysis revealed seven uncharacterized genes, sven0909 to sven0915, adjacent to the previously identified chloramphenicol biosynthetic gene cluster (sven0916-sven0928) of Streptomyces venezuelae strain ATCC 10712 that was absent in a closely related Streptomyces strain that does not produce chloramphenicol. Transcriptional analysis suggested that three of these genes might be involved in chloramphenicol production, a prediction confirmed by the construction of deletion mutants. These three genes encode a cluster-associated transcriptional activator (Sven0913), a phosphopantetheinyl transferase (Sven0914), and a Na(+)/H(+) antiporter (Sven0915). Bioinformatic analysis also revealed the presence of a previously undetected gene, sven0925, embedded within the chloramphenicol biosynthetic gene cluster that appears to encode an acyl carrier protein, bringing the number of new genes likely to be involved in chloramphenicol production to four. Microarray experiments and synteny comparisons also suggest that sven0929 is part of the biosynthetic gene cluster. This has allowed us to propose an updated and revised version of the chloramphenicol biosynthetic pathway.
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BIOBADASER, BIOBADAMERICA, and BIOBADADERM: safety registers sharing commonalities across diseases and countries.
Clin. Exp. Rheumatol.
PUBLISHED: 09-25-2014
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Registers facilitate the collection and communication of safety concerns. There are as many different register structures as registers, making the merging of rare data and comparison between registers difficult. BIOBADASER, the Safety Register of the Spanish Society of Rheumatology has served as template for other registers within the specialty, BIOBADAMERICA, and outside rheumatology, BIOBADADERM. Here we present the limitations and strengths of such template registers.
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Predictors of Response to TNF Antagonists.
Curr. Pharm. Des.
PUBLISHED: 08-25-2014
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: Rheumatoid arthritis (RA) is a chronic inflammatory disease that involves synovial tissue and leads to joint destruction. There are currently 5 tumor necrosis factor (TNF) antagonists licensed for the treatment of RA. This review summarizes the predictors of response to TNF antagonists in RA. Demographic variables were found to predict response, although not consistently. The variables associated with poor clinical response were presence of radiographic joint erosions at baseline, poor functional capacity at baseline, presence of human antibodies against TNF chimeric antibodies, and increase in anti-DNA and antinuclear antibodies. In selected populations, polymorphisms of TNF, TNF receptor, and Fc β receptor were related to clinical response. Expression of TNF and other inflammatory cytokines in synovial tissue was explored. The heterogeneity of study populations limits the generalizability of the results in most studies.
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Non-HLA genes PTPN22, CDK6 and PADI4 are associated with specific autoantibodies in HLA-defined subgroups of rheumatoid arthritis.
Arthritis Res. Ther.
PUBLISHED: 08-20-2014
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IntroductionGenetic susceptibility to complex diseases has been intensively studied during the last decade, yet only signals with small effect have been found leaving open the possibility that subgroups within complex traits show stronger association signals. In rheumatoid arthritis (RA), autoantibody production serves as a helpful discriminator in genetic studies and today anti-citrullinated cyclic peptide (anti-CCP) antibody positivity is employed for diagnosis of disease. The HLA-DRB1 locus is known as the most important genetic contributor for the risk of RA, but is not sufficient to drive autoimmunity and additional genetic and environmental factors are involved. Hence, we addressed the association of previously discovered RA loci with disease-specific autoantibody responses in RA patients stratified by HLA-DRB1*04.MethodsWe investigated 2178 patients from three RA cohorts from Sweden and Spain for 41 genetic variants and four autoantibodies, including the generic anti-CCP as well as specific responses towards citrullinated peptides from vimentin, alpha-enolase and type II collagen.ResultsOur data demonstrated different genetic associations of autoantibody-positive disease subgroups in relation to the presence of DRB1*04. Two specific subgroups of autoantibody-positive RA were identified. The SNP in PTPN22 was associated with presence of anti-citrullinated enolase peptide antibodies in carriers of HLA-DRB1*04 (Cochran-Mantel-Haenszel test P¿=¿0.0001, P corrected <0.05), whereas SNPs in CDK6 and PADI4 were associated with anti-CCP status in DRB1*04 negative patients (Cochran-Mantel-Haenszel test P¿=¿0.0004, P corrected <0.05 for both markers). Additionally we see allelic correlation with autoantibody titers for PTPN22 SNP rs2476601 and anti-citrullinated enolase peptide antibodies in carriers of HLA-DRB1*04 (Mann Whitney test P¿=¿0.02) and between CDK6 SNP rs42041 and anti-CCP in non-carriers of HLA-DRB1*04 (Mann Whitney test P¿=¿0.02).ConclusionThese data point to alternative pathways for disease development in clinically similar RA subgroups and suggest an approach for study of genetic complexity of disease with strong contribution of HLA.
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An update on leptin as immunomodulator.
Expert Rev Clin Immunol
PUBLISHED: 08-07-2014
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Until the discovery of leptin 20 years ago, adipose tissue was considered only as a fat storage organ, involved in the regulation of energy homeostasis. At present, it is well known that adipokines, being leptin the forerunner of this superfamily, may act in different biological processes, including inflammation and immunity. In this review, we have explored the recent evidence about the relationship between leptin and immune system, summarizing the most important findings related to the involvement of leptin in both innate and adaptive immune response.
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Synaptic upregulation and superadditive interaction of dopamine D2- and mu-opioid receptors after peripheral nerve injury.
Pain
PUBLISHED: 07-15-2014
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A sound strategy for improving the clinical efficacy of opioids involves exploiting positive interactions with drugs directed at other targets in pain pathways. The current study investigated the role of dopamine receptor D2 (D2R) in modulation of spinal dorsal horn excitability to noxious input, and interactions therein with ?-opioid receptor (MOR) in an animal model of neuropathic pain induced by spinal nerve ligation (SNL). C-fiber-evoked field potentials in the spinal dorsal horn were depressed concentration dependently by spinal superfusion with the D2R agonist quinpirole both in nerve-injured and sham-operated (control) rats. However, quinpirole-induced depression was significant at 10?mol/L after SNL but only at 100?mol/L in control rats. This quinpirole effect was completely abolished by MOR antagonist CTOP at subclinical concentration (1?mol/L) in nerve-injured rats, but was unaltered in sham-operated rats. Nine days after SNL, D2R was upregulated to both presynaptic and postsynaptic locations in dorsal horn neurons, as revealed by double confocal immunofluorescence stainings for synaptophysin and PSD-95. In addition, D2R/MOR co-localization was increased after SNL. Co-administration of 1?mol/L quinpirole, insufficient per se to alter evoked potentials, dramatically enhanced inhibition of evoked potentials by MOR agonist DAMGO, reducing the IC50 value of DAMGO by 2 orders of magnitude. The present data provide evidence of profound functional and subcellular changes in D2R-mediated modulation of noxious input after nerve injury, including positive interactions with spinal MOR. These results suggest D2R co-stimulation as a potential avenue to improve MOR analgesia in sustained pain states involving peripheral nerve injury.
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Renal function recovery after laparosocopic pyeloplasty.
Cent European J Urol
PUBLISHED: 06-23-2014
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To observe the renal function recovery measured by diuretic renography in short and medium follow-up of patients with transperitoneal Anderson-Hynes laparoscopic pyeloplasty.
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Study on overhydration in dialysis patients and its association with inflammation.
Nefrologia
PUBLISHED: 06-08-2014
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 Patients with chronic kidney disease receiving haemodialysis (HD) have permanent variations in hydration status that may affect their survival. 
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Preanalytical errors: a preliminary approach to the point of view of primary health care givers.
Clin. Chem. Lab. Med.
PUBLISHED: 05-31-2014
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Abstract Background: The presence of errors in the preanalytical phase is a widely studied topic. However, information regarding the perspective of those professionals involved is rather scant. Methods: Two focus groups of professionals from Primary Care involved in the preanalytical phase (general practitioners [GP], community nurses [CN], and other auxiliary health workers, including administrative personnel [AHW]) were convened. A qualitative analysis with a phenomenological approach was performed by using the structure of SWOT (Strengths, Weaknesses, Opportunities and Threats) analysis as a guide, and results were categorized by grouping the resultant dimensions according to this structure. Results: Overall, 12 professionals (3 GP, 6 CN, and 3 AHW) were distributed in two groups. Age and gender distribution were similar between groups. The most commented strengths were organizational capability and teamwork. The main weakness was the workload increase (compared to the short time spent on sample collection). Opportunities were related to workload optimization through on-line analytical requests. Threats were related to the long time elapsed between sample drawing at Primary Care and delivery to the Central Laboratory. Conclusions: The phenomenological approach allows revealing those aspects that cannot be entirely elucidated by objective data measurement. Attitudes considered as positive can be exploited by the institution, whereas those considered as negative alert us to possible future problems. Primary Care professionals offered a different point of view to laboratory staff, but both recognized high workload as the main threat and on-line analytical request as the best opportunity. These perspectives may help to improve detection and decrease the number of errors.
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Bone metabolism and adipokines: are there perspectives for bone diseases drug discovery?
Expert Opin Drug Discov
PUBLISHED: 05-24-2014
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Over the past 20 years, the idea that white adipose tissue (WAT) is simply an energy depot organ has been radically changed. Indeed, present understanding suggests WAT to be an endocrine organ capable of producing and secreting a wide variety of proteins termed adipokines. These adipokines appear to be relevant factors involved in a number of different functions, including metabolism, immune response, inflammation and bone metabolism.
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Risk of tuberculosis in patients with chronic immune-mediated inflammatory diseases treated with biologics and tofacitinib: a systematic review and meta-analysis of randomized controlled trials and long-term extension studies.
Rheumatology (Oxford)
PUBLISHED: 05-11-2014
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The aim of this study was to assess the risk of active tuberculosis (TB) in patients with immune-mediated inflammatory diseases treated with biologics and tofacitinib in randomized controlled trials (RCTs) and long-term extension (LTE) studies.
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Traumatic rupture of the corpus cavernosum: surgical management and clinical outcomes. A 30 years review.
Cent European J Urol
PUBLISHED: 04-17-2014
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Penile trauma (PT) with associated rupture of the corpus cavernosum, also called penile fracture, is a urological emergency and surgical treatment is usually the choice of management. Our objective is to report our experience after 30 years in the diagnosis and therapeutic options of PT and evaluate the clinical outcomes after the treatment.
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The effect of replacing aluminium hydroxide with calcium acetate/magnesium carbonate on serum phosphorus control in haemodialysis patients.
Nefrologia
PUBLISHED: 03-25-2014
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Calcium acetate/magnesium carbonate (MgCO3) is a phosphorus binder with advantages in terms of cost, safety and tolerance and it has a similar efficacy to other drugs. The objective of the study is to assess the effects of replacing aluminium hydroxide [Al(OH3)] with MgCO3 on phosphorus and calcium metabolism in a cohort of haemodialysis patients.
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Lack of replication of interactions between polymorphisms in rheumatoid arthritis susceptibility: case¿control study.
Arthritis Res. Ther.
PUBLISHED: 03-24-2014
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IntroductionApproximately 100 loci have been definitively associated with rheumatoid arthritis (RA) susceptibility. However, they only explain a fraction of RA heritability. Interactions between polymorphisms could explain part of the remaining heritability. Multiple interactions have been reported, but only the shared epitope (SE) X protein tyrosine phosphatase non-receptor type 22 (PTPN22) interaction has been replicated convincingly. Two recent studies deserve attention because of their quality, including replication in a second sample collection. One of them has identified interactions between PTPN22 and seven single nucleotide polymorphisms (SNPs). The other showed interaction between the SE and the null genotype of glutathione S-transferase Mu 1 (GSTM1) in the anti-cyclic citrullinated peptide positive (anti-CCP+) patients. The current study aimed to replicate association with RA susceptibility of interactions described in these two studies of high quality.MethodsA total of 1744 patients with RA and 1650 healthy controls of Spanish ancestry were studied. Polymorphisms were genotyped by single base extension; SE genotypes of 736 patients were available from previous studies. Interaction analysis was done with multiple methods that included the originally reported and the most powerful described.ResultsGenotypes of one of the SNPs (rs4695888) failed quality control. Call rate for the other eight polymorphisms was 99.9%. Their frequencies were similar in RA patients and controls, except for PTPN22. None of the interactions between PTPN22 and the six SNPs was replicated as a significant interaction term, the originally reported finding, or with any of the other methods. Neither was replicated the interaction between GSTM1 and SE as a departure from additivity in anti-CCP+ patients or with any of the other methods.ConclusionsNone of the interactions tested were replicated in spite of sufficient power and assessment with different assays. These negative results indicate that we still do not know whether interactions are a significant contribution to RA susceptibility or not, and that we need to apply strict standards for claiming interaction.
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Lipid profile changes in patients with chronic inflammatory arthritis treated with biologics and tofacitinib in randomized clinical trials: A systematic review and meta-analysis.
PUBLISHED: 03-18-2014
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Objective: To analyze lipid changes in rheumatoid arthritis (RA) and spondyloarthritis (SpA) treated with biologics or tofacitinib in randomized clinical trials (RCT). Methods: Systematic literature search using Medline, Embase, Cochrane Library and the Web of Knowledge databases. Meta-analyses were done using random-effects models to assess changes in the percentage of patients with abnormal values or in the mean percentage of the cholesterol and triglycerides levels increase. Results: Twenty-five of 4527 identified articles met the inclusion criteria. Compared with placebo, RA patients treated with tocilizumab were more likely to have hypercholesterolemia [OR 4.64 (2.71-7.95, p<0.001)], increased HDL cholesterol [OR 2.25 (1.14-4.44, p=0.020)] and increased LDL cholesterol [OR 4.80 (3.27-7.05, p<0.001)] but not with TNF antagonist [OR 1.54 (0.90-2.66, p=0.119)] or tofacitinib RCT [OR 3.4 (0.62-18.55, p=0.158)]. In RA, the mean percentages of increase in HDL cholesterol [Weight Mean Difference (WMD) 13.00 mg/dL (12.08-13.93, p<0.001)] or LDL cholesterol [WMD 11.20 mg/dL (10.08-12.32, p<0.001)] with tofacitinib 5 mg BID and in HDL cholesterol [WMD 15.21 mg/dL (13.28-17.14, p<0.001)] or LDL cholesterol [WMD 15.42 mg/dL (11.77-19.06, p<0.001)] with tofacitinib 10 mg BID were higher than in their comparator groups. No data were available for RA treated with other biologics or for SpA. Conclusion: In RA treated with tocilizumab and tofacitinib but not with TNF antagonists, moderate changes in lipids are observed. Whether these changes pertain to the control of the inflammation or the mechanism of action of the biologics or tofacitinib remains undetermined. © 2014 American College of Rheumatology.
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Procalcitonin as an early predictor of acute infection in hemodialysis patients.
Nefrologia
PUBLISHED: 03-09-2014
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Hemodialysis patients have a greater risk of infection than individuals not on dialysis. Procalcitonin has been shown to rise in bacterial from but widely studied in hemodialysis patients. The present study evaluates procalcitonin as an early predictor of infection in this population.
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Effect of lysophosphatidic acid receptor inhibition on bone changes in ovariectomized mice.
J. Bone Miner. Metab.
PUBLISHED: 03-07-2014
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Pharmacological inhibition of signaling through lysophosphatidic acid (LPA) receptors reduces bone erosions in an experimental model of arthritis by mechanisms involving reduced osteoclast differentiation and bone resorption and increased differentiation of osteoblasts and bone mineralization. These results led us to hypothesize that LPA receptor inhibition would be beneficial in osteoporosis. Our aim was to test this hypothesis with the LPA receptor antagonist, Ki16425, in ovariectomized mice, a model of postmenopausal osteoporosis. Ovariectomized mice treated with Ki16425 showed bone loss similar to that observed in the controls. Osteoblast markers, Alpl, Bglap and Col1a1, were increased at the mRNA level but no changes were detected in serum. No additional difference was observed in the Ki16425-treated mice relative to the ovariectomized controls with regard to osteoclast function markers or assays of matrix mineralization or osteoclast differentiation. Thus, pharmacological inhibition of LPA receptor was not beneficial for preventing bone loss in ovariectomized mice, indicating that its favorable effect on bone remodeling is less general than hypothesized.
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Treatment of psoriatic arthritis in a phase 3 randomised, placebo-controlled trial with apremilast, an oral phosphodiesterase 4 inhibitor.
Ann. Rheum. Dis.
PUBLISHED: 03-04-2014
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Apremilast, an oral phosphodiesterase 4 inhibitor, regulates inflammatory mediators. Psoriatic Arthritis Long-term Assessment of Clinical Efficacy 1 (PALACE 1) compared apremilast with placebo in patients with active psoriatic arthritis despite prior traditional disease-modifying antirheumatic drug (DMARD) and/or biologic therapy.
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Safety and efficacy of olanzapine in the long-term treatment of Japanese patients with bipolar I disorder, depression: an integrated analysis.
Psychiatry Clin. Neurosci.
PUBLISHED: 03-04-2014
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Safety and efficacy of long-term olanzapine treatment in Japanese patients with bipolar depression were assessed.
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Effect of the FTO rs9930506 Polymorphism on the Main Comorbidities of the Cardiorenal Metabolic Syndrome in an Elderly Spanish Cohort.
Cardiorenal Med
PUBLISHED: 03-03-2014
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Fat mass and obesity-associated (FTO) gene polymorphisms have been linked to the risk of obesity and diabetes, two well-recognized risk factors for renal disease. Our aim was to determine whether a common FTO polymorphism was associated with a reduced estimated glomerular filtration rate (eGFR) independently of body mass index (BMI) and type 2 diabetes mellitus (T2DM) in a cohort of elderly individuals from the region of Asturias (Northern Spain; RENASTUR cohort).
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Three-Dimensional Color Doppler Transesophageal Echocardiography for Mitral Paravalvular Leak Quantification and Evaluation of Percutaneous Closure Success.
J Am Soc Echocardiogr
PUBLISHED: 03-02-2014
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Three-dimensional (3D) color Doppler transesophageal echocardiography (TEE) enables accurate planimetry of the effective regurgitant orifice (ERO) of a mitral paravalvular leak (PVL). The aim of this study was to evaluate the usefulness of this method to quantify paravalvular regurgitation and to assess percutaneous PVL closure success, compared with 3D planimetry of PVLs without using color-flow images (3D anatomic regurgitant orifice [ARO]).
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Lack of validation of genetic variants associated with anti-tumor necrosis factor therapy response in rheumatoid arthritis: a genome-wide association study replication and meta-analysis.
Arthritis Res. Ther.
PUBLISHED: 02-25-2014
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In this study, our aim was to elucidate the role of four polymorphisms identified in a prior large genome-wide association study (GWAS) in which the investigators analyzed the responses of patients with rheumatoid arthritis (RA) to treatment with tumor necrosis factor inhibitors (TNFi). The authors of that study reported that the four genetic variants were significantly associated. However, none of the associations reached GWAS significance, and two subsequent studies failed to replicate these associations.
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Lack of replication of higher genetic risk load in men than in women with systemic lupus erythematosus.
Arthritis Res. Ther.
PUBLISHED: 02-21-2014
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We aimed to replicate a recent study which showed higher genetic risk load at 15 loci in men than in women with systemic lupus erythematosus (SLE). This difference was very significant, and it was interpreted as indicating that men require more genetic susceptibility than women to develop SLE.
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Analysis of Infections and All-Cause Mortality in Phase II, Phase III, and Long-Term Extension Studies of Tofacitinib in Patients With Rheumatoid Arthritis.
PUBLISHED: 02-20-2014
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To determine the rate of infection and all-cause mortality across tofacitinib phase II, phase III, and long-term extension (LTE) studies in patients with moderately to severely active rheumatoid arthritis (RA).
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A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients.
J. Hum. Genet.
PUBLISHED: 02-17-2014
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Gitelman's syndrome (GS) is a rare recessive disorder caused by mutations in the renal salt-handling genes SLC12A3 and CLCNKB. Our aim was to develop a next-generation sequencing (NGS) procedure for these genes based on two-tubes multiplex amplification of DNA pools and semiconductor sequencing with the Ion Torrent Personal Genome Machine (PGM). We created one pool with DNA from 20 GS patients previously Sanger sequenced for the coding exons of SLC12A3. A total of 13 mutations present in 11 of these patients were used as control variants to validate the NGS procedure. The full coding sequence of SLC12A3, CLCNKB and CLCNKA was amplified in only two Ampliseq tubes and processed and sequenced with the PGM. Large SLC12A3 and CLCNKB deletions were ascertained through multiplex ligation-dependent probe amplification in some patients. With the exception of the SLC12A3 exon 9, all the amplicons were successfully read and 12 of the 13 control variants were detected. The analysis of CLCNKB showed four putative mutations in the GS pool that were further assigned to specific patients. Two patients were heterozygous compounds for a single-nucleotide mutation and a large deletion at SLC12A3 or CLCNKB. We reported a NGS procedure that would facilitate the rapid and cost-effective large-scale screening of the three renal salt-handling genes. In addition to characterize the mutational spectrum of GS patients, the described procedure would facilitate the rapid and cost-effective screening of these genes at a population scale.
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Laparoscopic radical prostatectomy training for residents: Hospital Universitario La Paz model.
Cent European J Urol
PUBLISHED: 02-16-2014
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In the last decade, we have seen the advance of laparoscopic surgery in urology.All laparoscopic procedures in our department are performed by staff members and are assisted by a single resident, ensuring resident training in laparoscopic surgery. The aim of this study is to evaluate the results of the Hospital La Paz training program for residents in the field of laparoscopic surgery.
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Pomaglumetad Methionil (LY2140023 Monohydrate) and Aripiprazole in Patients with Schizophrenia: A Phase 3, Multicenter, Double-Blind Comparison.
Schizophr Res Treatment
PUBLISHED: 01-31-2014
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We tested the hypothesis that long-term treatment with pomaglumetad methionil would demonstrate significantly less weight gain than aripiprazole in patients with schizophrenia. In this 24-week, multicenter, randomized, double-blind, Phase 3 study, 678 schizophrenia patients were randomized to either pomaglumetad methionil (n = 516) or aripiprazole (n = 162). Treatment groups were also compared on efficacy and various safety measures, including serious adverse events (SAEs), discontinuation due to adverse events (AEs), treatment-emergent adverse events (TEAEs), extrapyramidal symptoms (EPS), and suicide-related thoughts and behaviors. The pomaglumetad methionil group showed significantly greater weight loss at Week 24 (Visit 12) compared with the aripiprazole group (-2.8?±?0.4 versus 0.4?±?0.6; P < 0.001). However, change in Positive and Negative Syndrome Scale (PANSS) total scores for aripiprazole was significantly greater than for pomaglumetad methionil (-15.58?±?1.58 versus -12.03?±?0.99; P = 0.045). The incidences of SAEs (8.2% versus 3.1%; P = 0.032) and discontinuation due to AEs (16.2% versus 8.7%; P = 0.020) were significantly higher for pomaglumetad methionil compared with aripiprazole. No statistically significant differences in the incidence of TEAEs, EPS, or suicidal ideation or behavior were noted between treatment groups. In conclusion, long-term treatment with pomaglumetad methionil resulted in significantly less weight gain than aripiprazole. This trial is registered with ClinicalTrials.gov NCT01328093.
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Coupling of serotonergic input to NMDA receptor-phosphorylation following peripheral nerve injury via rapid, synaptic up-regulation of ND2.
Exp. Neurol.
PUBLISHED: 01-31-2014
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Evidence implicates serotonergic input to spinal dorsal horn neurons in shifting the NMDA receptor (NMDAR) into a high functional output profile after spinal nerve ligation (SNL). We investigated the involvement of adaptor protein NADH dehydrogenase subunit 2 (ND2) in NMDAR-phosphorylation and spinal hyperexcitability secondary to peripheral nerve injury. Immunofluorescence for ND2 was found in dorsal horn neurons immunopositive for NMDAR subunit NR1. Co-localization of ND2 with postsynaptic marker PSD-95 was significantly increased 60min after SNL (Rr 0.77 vs Rr 0.06 in sham controls; z=-242.85; p<0.01 at Fisher's exact test). Western blot analyses confirmed ND2 up-regulation both in cytoplasmic (S2) and synaptic (P3) compartments (p<0.01 at the Student's t test). SNL was followed by increased co-localization of ND2 with the phosphorylated form (serine 896) of NR1 (pNMDA). Spinal superfusion with ND2 inhibitor rotenone prevented up-regulation of ND2 (Rr 0.06 after rotenone vs Rr 0.78 in vehicle-treated controls, z=-253.22, p<0.01) and pNR1 in P3. C fiber-evoked dorsal horn field potentials were increased 60min after SNL by superfusion with NMDA agonist cis-ACPD at 100nM (p<0.01 at the Bonferroni test), however cis-ACPD was effective only at 10?M following prior administration of rotenone. Rotenone also abolished enhancement of evoked potentials induced by simultaneous stimulation of NMDA and 5-HR2B receptors in uninjured rats. Increased postsynaptic up-regulation of ND2/pNMDAR 60min after SNL was prevented by prior administration of selective 5-HT2B antagonist SB204741. These results support a pivotal role for ND2 in coupling serotonergic input to NMDAR-activation during neuropathic pain.
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Quantification of left atrial volumes using three-dimensional wall motion tracking echocardiographic technology: comparison with cardiac magnetic resonance.
Eur Heart J Cardiovasc Imaging
PUBLISHED: 01-30-2014
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Left atrium (LA) size assessment is clinically relevant, but the accuracy of two-dimensional echocardiographic (2D-echo) methods is limited. Three-dimensional (3D) echocardiography is an excellent alternative but is far from being used in daily clinical practice. Three-dimensional-wall motion tracking (3D-WMT) allows us to obtain volumes in a very simple and rapid manner. The aims of this study were to evaluate the accuracy of 3D-WMT technology to assess LA volume using cardiac magnetic resonance (CMR) as a reference method, to evaluate its reproducibility, and to determine its added clinical value to classify the LA enlargement severity.
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[Metabolic syndrome is associated with cardiovascular events in haemodialysis].
Nefrologia
PUBLISHED: 01-28-2014
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Metabolic syndrome (MS) is a cardiovascular risk factor and is associated with mortality in the general population and in patients with chronic kidney disease. However, few studies have been carried out in patients on haemodialysis (HD).
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Approach to kidney stones associated with ureteropelvic junction obstruction during laparoscopic pyeloplasty.
Cent European J Urol
PUBLISHED: 01-27-2014
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We have performed laparoscopic pyeloplasty (LP) in our department since 2004. Our goal is to describe, step by step, the approach of kidney stones during transperitoneal laparoscopic pyeloplasty and the outcomes after the procedure.
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Echocardiographic reference ranges for normal cardiac chamber size: results from the NORRE study.
Eur Heart J Cardiovasc Imaging
PUBLISHED: 01-21-2014
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Availability of normative reference values for cardiac chamber quantitation is a prerequisite for accurate clinical application of echocardiography. In this study, we report normal reference ranges for cardiac chambers size obtained in a large group of healthy volunteers accounting for gender and age. Echocardiographic data were acquired using state-of-the-art cardiac ultrasound equipment following chamber quantitation protocols approved by the European Association of Cardiovascular Imaging.
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Proximal flow convergence method by three-dimensional color Doppler echocardiography for mitral valve area assessment in rheumatic mitral stenosis.
J Am Soc Echocardiogr
PUBLISHED: 01-14-2014
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The two-dimensional (2D) proximal isovelocity surface area (PISA) method has important technical limitations for mitral valve orifice area (MVA) assessment in mitral stenosis (MS), mainly the geometric assumptions of PISA shape and the requirement of an angle correction factor. Single-beat real-time three-dimensional (3D) color Doppler imaging allows the direct measurement of PISA without geometric assumptions or the requirement of an angle correction factor. The aim of this study was to validate this method in patients with rheumatic MS.
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Mitochondrial DNA haplogroups and risk of new-onset diabetes among tacrolimus-treated renal transplanted patients.
Gene
PUBLISHED: 01-13-2014
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Tacrolimus (Tac) is an immunosuppressive drug widely used to avoid organ rejection. New-onset diabetes after transplantation (NODAT) is a major complication among transplanted patients who receive Tac. The increased risk for NODAT could be partly mediated by the effect of Tac on mitochondria from pancreatic beta-cells. Common and rare mitochondrial DNA variants have been linked to the risk of diabetes. Our aim was to determine whether mtDNA polymorphisms/haplogroups were associated with NODAT in Tac-treated kidney transplanted.
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Adipokines, metabolic syndrome and rheumatic diseases.
J Immunol Res
PUBLISHED: 01-10-2014
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The metabolic syndrome (MetS) is a cluster of cardiometabolic disorders that result from the increasing prevalence of obesity. The major components of MetS include insulin resistance, central obesity, dyslipidemia, and hypertension. MetS identifies the central obesity with increased risk for cardiovascular diseases (CVDs) and type-2 diabetes mellitus (T2DM). Patients with rheumatic diseases, such as rheumatoid arthritis, osteoarthritis, systemic lupus erythematosus, and ankylosing spondylitis, have increased prevalence of CVDs. Moreover, CVD risk is increased when obesity is present in these patients. However, traditional cardiovascular risk factors do not completely explain the enhanced cardiovascular risk in this population. Thus, MetS and the altered secretion patterns of proinflammatory adipokines present in obesity could be the link between CVDs and rheumatic diseases. Furthermore, adipokines have been linked to the pathogenesis of MetS and its comorbidities through their effects on vascular function and inflammation. In the present paper, we review recent evidence of the role played by adipokines in the modulation of MetS in the general population, and in patients with rheumatic diseases.
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The effects of ghrelin antagonists [D-Lys(3) ]-GHRP-6 or JMV2959 on ethanol, water, and food intake in C57BL/6J mice.
Alcohol. Clin. Exp. Res.
PUBLISHED: 01-09-2014
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Alcohol use and abuse patterns have created a need for novel treatment models. Current research has turned its focus on reward pathways associated with intrinsic necessities, such as feeding. Theories suggest that drugs of abuse seize control of natural reward pathways and dysregulate normal function, leading to chronic addiction. One such pathway involving the hunger stimulating peptide, ghrelin, is the focus of our study.
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Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
Nat Commun
PUBLISHED: 01-08-2014
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Mutations in different genes encoding sarcomeric proteins are responsible for 50-60% of familial cases of hypertrophic cardiomyopathy (HCM); however, the genetic alterations causing the disease in one-third of patients are currently unknown. Here we describe a case with familial HCM of unknown cause. Whole-exome sequencing reveals a variant in the gene encoding the sarcomeric protein filamin C (p.A1539T) that segregates with the disease in this family. Sequencing of 92 HCM cases identifies seven additional variants segregating with the disease in eight families. Patients with FLNC mutations show marked sarcomeric abnormalities in cardiac muscle, and functional analysis reveals that expression of these FLNC variants resulted in the formation of large filamin C aggregates. Clinical studies indicate that FLNC-mutated patients have higher incidence of sudden cardiac death. On the basis of these findings, we conclude that mutations in the gene encoding the sarcomeric protein filamin C cause a new form of familial HMC.
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Efficacy and safety of golimumab as add-on therapy to disease-modifying antirheumatic drugs in rheumatoid arthritis: Results of the GO-MORE study in Spain.
Reumatol Clin
PUBLISHED: 01-08-2014
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To assess the efficacy and safety of golimumab in the 140 patients included in Spain as the first part of the GO-MORE trial, a multinational study involving patients with active rheumatoid arthritis (RA) despite treatment with different disease-modifying antirheumatic drugs (DMARDs).
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NUCB2/nesfatin-1: a new adipokine expressed in human and murine chondrocytes with pro-inflammatory properties, an in vitro study.
J. Orthop. Res.
PUBLISHED: 01-06-2014
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Nesfatin-1 is a recently discovered satiety-inducing adipokine identified in hypothalamic regions that regulates energy balance. So far, no data exist on NUCB2/nesfatin-1 localization in human and murine chondrocytes. Here, we therefore investigated NUCB2/nesfatin-1 gene and protein expression in human and murine chondrocytes and the effect of nesfatin-1 on pro-inflammatory cytokines expression. Peptide localization was performed by laser confocal microscopy, NUCB2 mRNA expression was studied by RT-PCR and protein secretion was measured by XMap technology and Western blot analysis. First, we demonstrated cytoplasmic localization of NUCB2/nesfatin-1 peptide in both human and murine chondrocytes. We present evidence that both mRNA and protein expression of NUCB2 were increased during the differentiation of ATDC5 murine chondrocyte cell line. Furthermore, we demonstrated that nesfatin-1 induces IL-6 and MIP-1? mRNA expression and protein secretion in ATDC-5 cells challenged with IL-1, and also increases COX-2 mRNA expression in these cells. Finally, nesfatin-1 provoked a clear induction of pro-inflammatory agents, such as COX-2, IL-8, IL-6, and MIP-1? in human primary chondrocytes from OA patients.
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Identification of Histological Patterns in Clinically Affected and Unaffected Palm Regions in Dupuytren's Disease.
PLoS ONE
PUBLISHED: 01-01-2014
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Dupuytren's disease is a fibro-proliferative disease characterized by a disorder of the extracellular matrix (ECM) and high myofibroblast proliferation. However, studies failed to determine if the whole palm fascia is affected by the disease. The objective of this study was to analyze several components of the extracellular matrix of three types of tissues-Dupuytren's diseased contracture cords (DDC), palmar fascia clinically unaffected by Dupuytren's disease contracture (NPF), and normal forehand fascia (NFF). Histological analysis, quantification of cells recultured from each type of tissue, mRNA microarrays and immunohistochemistry for smooth muscle actin (SMA), fibrillar ECM components and non-fibrillar ECM components were carried out. The results showed that DDC samples had abundant fibrosis with reticular fibers and few elastic fibers, high cell proliferation and myofibroblasts, laminin and glycoproteins, whereas NFF did not show any of these findings. Interestingly, NPF tissues had more cells showing myofibroblasts differentiation and more collagen and reticular fibers, laminin and glycoproteins than NFF, although at lower level than DDC, with similar elastic fibers than DDC. Immunohistochemical expression of decorin was high in DDC, whereas versican was highly expressed NFF, with no differences for aggrecan. Cluster analysis revealed that the global expression profile of NPF was very similar to DDC, and reculturing methods showed that cells corresponding to DDC tissues proliferated more actively than NPF, and NPF more actively than NFF. All these results suggest that NPF tissues may be affected, and that a modification of the therapeutic approach used for the treatment of Dupuytren's disease should be considered.
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Management of extreme ametropia after penetrating keratoplasty: a series of surgical procedures for high myopia and astigmatism.
Case Rep Ophthalmol
PUBLISHED: 01-01-2014
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A series of surgical interventions - relaxing corneal incisions, intraocular lens, and intrastromal rings - were used to correct a case of extreme ametropia in a thin cornea after a penetrating keratoplasty in an 18-year-old patient who presented with a -10.25 -8.50 × 120 preoperative refraction and 20/200 best-corrected visual acuity (BCVA). After a series of surgical procedures, the patient's BCVA in his left eye improved to 20/30 with +0.50 -1.00 × 170, the slit lamp examination showed no significant findings, and the patient's visual complaints disappeared. At the 1-year follow-up, the BCVA was 20/25, without visual complaints. The process of individualizing the surgical procedure in the present case was employed in an outcome-based approach, that is, the next surgical procedure was defined after the surgery and postoperative evaluation. The patient did not present complications during the follow-up period of 2.5 years.
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An integral topical gel for cellulite reduction: results from a double-blind, randomized, placebo-controlled evaluation of efficacy.
Clin Cosmet Investig Dermatol
PUBLISHED: 01-01-2014
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Cellulite is a serious cosmetic concern for most of the 90% of women affected by it.
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Maintenance therapy of lupus nephritis with micophenolate or azathioprine: systematic review and meta-analysis.
Rheumatology (Oxford)
PUBLISHED: 12-24-2013
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Objective. The objective of this study was to summarize the comparative efficacy and safety of MMF and AZA as maintenance therapy for LN.Methods. Systematic review and meta-analysis of randomized clinical trials of MMF and AZA as maintenance therapy for LN were performed based on a sensitive search. Meta-regression was used to explore causes of heterogeneity. Safety was explored using crude and combined incidence rate ratios (IRRs) of the more frequent adverse events (AEs).Results. The search produced 7341 hits. Four randomized clinical trials and one long-term study were selected for detailed analysis. No significant differences between MMF and AZA were found in sustained remission, relapse, renal failure, creatinine increase or death. However, there was high heterogeneity in the design of studies, drug doses and treatment in the previous induction phase. Significant lower rates of discontinuation due to AEs occurred in the MMF group, with a relative risk (RR) of 0.60 (95% CI 0.41, 0.88) but significant risk of publication bias (Egger test, P = 0.012). Gastrointestinal manifestations were more common [combined IRR 1.68 (95% CI 1.06, 2.68)] and leucopoenia less frequent in the MMF group [combined IRR 0.14 (95% CI 0.05, 0.42)].Conclusion. The available data does not support the superiority of MMF or AZA as maintenance therapy for LN. Nevertheless, the high heterogeneity of studies included in the analysis makes this contention questionable.
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Perception of pointing from biological motion point-light displays in typically developing children and children with autism spectrum disorder.
J Autism Dev Disord
PUBLISHED: 10-18-2013
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We examined whether the movement involved in a pointing gesture, depicted using point-light displays, is sufficient to cue attention in typically developing children (TD) and children with autism spectrum disorder (ASD) (aged 8-11 years). Using a Posner-type paradigm, a centrally located display indicated the location of a forthcoming target on 80% of trials and the opposite location on 20% of trials. TD children, but not children with ASD, were faster to identify a validly cued target than an invalidly cued target. A scrambled version of the point-light pointing gesture, retaining individual dot speed and direction of movement but not the configuration, produced no validity effect in either group. A video of a pointing gesture produced validity effects in both groups.
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Effect of mitochondrial, APOE. ACE and NOS3 gene polymorphisms on cardiovascular risk factors among the Vaqueiros de Alzada, a Northern Spain human isolate.
Ann. Hum. Biol.
PUBLISHED: 09-11-2013
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Abstract Background: The Vaqueiros de Alzada are a human isolate from Asturias, a Northern Spain region. Several hypotheses have been proposed to explain the origin of Vaqueiros. Methods and results: To determine whether the Vaqueiros and non-Vaqueiros from the same region have different genetic backgrounds, this study analysed nine mtDNA polymorphisms that define the common European mitochondrial haplogroups in a cohort of Vaqueiros (n?=?60) and non-Vaqueiros (n?=?110). Haplogroup H was the most frequent in Vaqueiros (42%) and non-Vaqueiros (46%). A total of 37% Vaqueiros were H1, compared to 31% of the non-Vaqueiros. This study also genotyped the two groups for three polymorphisms at the NOS3. APOE and ACE genes, that have previously been linked to risk of cardiovascular diseases. Allele and genotype frequencies did not differ between Vaqueiros and non-Vaqueiros. In addition, none of these polymorphisms were related to risk of hypertension, diabetes or hypercholesterolaemia in the two groups. Conclusion: The data suggested that Vaqueiros share the main haplogroup distribution as their non-Vaqueiros neighbours and other Cantabrian populations. In addition, no effect of the mitochondrial, NOS3. APOE and ACE polymorphisms on cardiovascular risk factors was observed.
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Non Optical Semi-Conductor Next Generation Sequencing of the Main Cardiac QT-Interval Duration Genes in Pooled DNA Samples.
J Cardiovasc Transl Res
PUBLISHED: 09-01-2013
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DNA variants at the genes encoding cardiac channels have been associated with inherited arrhythmias and the QT interval in the general population. Next generation sequencing technologies would be of special interest to uncover the genetic variation at these genes. The amplification and sequencing of DNA pools (instead of single individuals) would facilitate the rapid and cost-effective screening of large amounts of individuals. However, this pooling strategy could result in a signal of the rare variants below the detection capacity. To validate this approach, a pool of 20 individuals with known rare unique variants in five genes was amplified in only two tubes and sequenced using the non optical semi-conductor (Ion Torrent PGM, Life Technologies) technology. We show that this could be an effective strategy for the screening of large cohorts. Among others, this would facilitate the discovery of new sequence variants linked to cardiac arrhythmia in the general population.
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Identification of three new cis-regulatory IRF5 polymorphisms: in vitro studies.
Arthritis Res. Ther.
PUBLISHED: 08-13-2013
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Polymorphisms in IRF5 (interferon regulatory factor 5) are associated with susceptibility to systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and other diseases through independent risk and protective haplotypes. Several functional polymorphisms are already known but they do not account for the protective haplotypes that are tagged by the minor allele of rs729302.
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Heterologous expression of natural product biosynthetic gene clusters in Streptomyces coelicolor: from genome mining to manipulation of biosynthetic pathways.
J. Ind. Microbiol. Biotechnol.
PUBLISHED: 07-30-2013
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Heterologous gene expression is one of the main strategies used to access the full biosynthetic potential of actinomycetes, as well as to study the metabolic pathways of natural product biosynthesis and to create unnatural pathways. Streptomyces coelicolor A3(2) is the most studied member of the actinomycetes, bacteria renowned for their prolific capacity to synthesize a wide range of biologically active specialized metabolites. We review here the use of strains of this species for the heterologous production of structurally diverse actinomycete natural products.
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Diastolic dysfunction and high levels of new cardiac biomarkers as risk factors for cardiovascular events and mortality in hemodialysis patients.
Blood Purif.
PUBLISHED: 06-19-2013
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Background/Aims: Cardiovascular events (CVEs) are the most frequent cause of death in hemodialysis (HD). We aim to determine cardiovascular and mortality risk factors. Methods: A historical cohort study was made of 211 prevalent HD patients [73 (60-80) years, 58% males] between 2005 and 2012. Demographic, laboratory test and echocardiographic values were recorded. During follow-up, CVEs and mortality were documented and analyzed. Results: 94 patients suffered a CVE. Age, history of cardiovascular disease (CVD), peripheral vascular disease, cardiac markers, systolic and diastolic dysfunction (DD) were associated to CVEs. Low albumin (RR 0.414, p = 0.002), DD (1.876, p = 0.038) and previous CVD (3.723, p < 0.001) were identified as independent predictors of CVEs. 98 patients died. Age, a history of CVD, peripheral vascular disease, cardiac markers, DD, dialysis vintage, and a vascular access different from autologous fistulae were associated to mortality. Low albumin (RR 0.499, p = 0.046), DD (RR 2.414, p = 0.017) and a vascular access different from autologous fistulae (RR 2.058, p = 0.034) were independent predictors of mortality. Conclusions: DD is an emergent risk factor for death and CVEs in dialysis. Low albumin is also a predictor for CVE. Non-autologous fistulae and low albumin are predictors for death. Nt-proBNP and hsTnT offer good information for identifying high-risk patients, but they do not predict events independently as they are only cardiac damage markers.
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Factors related with the progression of chronic kidney disease.
Nefrologia
PUBLISHED: 05-24-2013
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Our aims were to determine the rate of progression of chronic kidney disease (CKD) and to identify predictors, with particular emphasis on bone and mineral metabolism.
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Plasma taurine as a predictor of poor outcome in patients with mild neurological deficits after aneurysmal subarachnoid hemorrhage.
J. Neurosurg.
PUBLISHED: 05-17-2013
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The object of this study was to determine the relationship between plasma taurine and subarachnoid hemorrhage (SAH) outcome.
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A CLCNKA polymorphism (rs10927887; p.Arg83Gly) previously linked to heart failure is associated with the estimated glomerular filtration rate in the RENASTUR cohort.
Gene
PUBLISHED: 05-09-2013
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A total of 569 individuals aged 55-85 and Caucasian were genotyped for SNP rs10927887 in the Ka renal chloride channel gene (CLCNKA). The following variables were significantly associated with an estimated glomerular filtration rate of (eGFR) <60 ml/min./1.73 m(2): age, type 2 diabetes, total cholesterol, LDL-cholesterol, and the CLCNKA GG genotype (p=0.03; OR=1.65, 95% CI=1.04-2.62). This novel finding could partly explain the reported greater risk of heart failure linked to the CLCNKA SNP, but requires confirmation on other populations.
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Gleason score 7 adenocarcinoma of the prostate with lymph node metastases: analysis of 184 radical prostatectomy specimens.
Arch. Pathol. Lab. Med.
PUBLISHED: 05-01-2013
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Prostate cancer (PC) with lymph node metastases (LN(+)) is relatively rare, whereas it is relatively common in disease with a Gleason score (GS) 8 to 10 and virtually never seen in PC with GS 6 or less. It is most variable in GS 7 PC.
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Observational study of optimization of biologic therapies in rheumatoid arthritis: a single-centre experience.
Rheumatol. Int.
PUBLISHED: 04-26-2013
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To analyse the effectiveness of optimization of biologics in rheumatoid arthritis (RA). It was a single-centre retrospective observational study from January 2009 to September 2012. The effectiveness of the optimization of TNF antagonists, tocilizumab and abatacept in RA was studied. Optimization included predefined dose down-titration and/or expansion of dose interval in early arthritis with sustained DAS28-ESR <2.6 and established arthritis with a sustained DAS28-ESR <3.2. Primary outcome was time to relapse defined as increase in DAS28-ESR greater than 20 % over baseline. Coxs regression analysis was performed to identify predictors of relapse. Sixty-four patients were included in the study. In the survival analysis, rates of relapse were 9.8 % at 6 months, 31.4 % at 12 months and 44.6 % at 18 months. Rates of patients with an increase in DAS28-ESR > 20 % and ?1 inflamed joint at 6, 9 and 18 months were 1.6, 17.2 and 27.1 %, respectively. In relapsing patients, mean DAS28-ESR at relapse was 3.44 (2.94-4.79) and mean DAS28-ESR following the return to the prior dose of the biologic was 2.52 (1.42-3.21). No predictors of relapse were found in multivariate analysis. Optimization of the treatment with biologics in RA is an efficacious and safe treatment option.
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Safety profile of protein kinase inhibitors in rheumatoid arthritis: systematic review and meta-analysis.
Ann. Rheum. Dis.
PUBLISHED: 04-18-2013
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OBJECTIVE: To summarise the adverse events (AE) reported in patients with rheumatoid arthritis (RA) treated with protein kinase inhibitors (PKi), and identify family and molecule-related AEs. METHODS: Systematic review of the PKi used in clinical trials (CTs) in RA. Medline, Embase, Cochrane Library, Web of Knowledge, and international abstracts of congress were reviewed, (up to 31 October 2012). Search was limited to interventional studies of PKi used in CTs in RA, written in English, and reporting frequencies of AE. Diseases with similar comorbidity burden also were included. Frequency of AE, serious AE (SAE), death and discontinuation due to  AEs (DCAE) were recorded. Risk of bias was assessed. Meta-analysis was carried using pooled relative risk (RR) with 95% CI as effect measure. RESULTS: The search produced 4410 hits. Forty-one articles reporting data on 21 PKi of the Janus kinase (JAK), SYK, p38 and cKit families were selected for detailed analysis. In patients treated with p38 inhibitors, RR for dizziness was 2.36 (1.20 to 4.63), and in patients treated with c-Kit inhibitors, RR for oedema was 3.43 (1.58 to 7.42). In patients treated with the JAK inhibitor tofacitinib, RR for hypercholesterolaemia was 1.70 (1.10 to 2.63) that was dose related. In patients treated with the Syk inhibitor fostamatinib, pooled RR for hypertransaminasaemia, hypertension, diarrhoea and neutropenia were 2.93 (1.02 to 8.43), 2.80 (1.58 to 5.99), 5.20 (3.19 to 8.49) and 9.24 (2.22 to 38.42), respectively. Serious infections and malignancies were not significantly more frequent in PKi-treated patients than in comparator groups. CONCLUSIONS: Event rates of serious infections and malignancies with PKi are not different from biologics. In addition, PKi have a unique safety profile related to target and off-target inhibition of kinases, at times dose related.
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A Common APOE Polymorphism Is an Independent Risk Factor for Reduced Glomerular Filtration Rate in the Spanish RENASTUR Cohort.
Cardiorenal Med
PUBLISHED: 04-03-2013
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APOE gene variants may contribute to the risk of chronic kidney disease. Our aim was to determine whether the common APOE-?2/?3/?4 polymorphism is associated with a reduced estimated glomerular filtration rate (eGFR) in the RENASTUR population, a cohort of elderly individuals from the region Asturias (northern Spain).
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Proximal isovelocity surface area by single-beat three-dimensional color Doppler echocardiography applied for tricuspid regurgitation quantification.
J Am Soc Echocardiogr
PUBLISHED: 04-01-2013
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The two-dimensional (2D) proximal isovelocity surface area (PISA) method has known technical limitations, mainly the geometric assumptions of PISA shape required to calculate effective regurgitant orifice area (EROA). Recently developed single-beat real-time three-dimensional (3D) color Doppler imaging allows the direct measurement of PISA without geometric assumptions and has already been validated for mitral regurgitation assessment. The aim of this study was to apply this novel method in patients with chronic tricuspid regurgitation (TR).
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Efficacy and safety of olanzapine for treatment of patients with bipolar depression: Japanese subpopulation analysis of a randomized, double-blind, placebo-controlled study.
BMC Psychiatry
PUBLISHED: 04-01-2013
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The efficacy and safety of olanzapine monotherapy are evaluated in Japanese patients from a large, global study of bipolar depression.
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Calcium renal lithiasis: metabolic diagnosis and medical treatment.
Sao Paulo Med J
PUBLISHED: 03-30-2013
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Calcium renal lithiasis is a frequent condition that affects the worldwide population and has a high recurrence rate. Different metabolic changes may trigger the onset of calcium stone disorders, such as hypercalciuria, hyperoxaluria, hyperuricosuria, hypocitraturia and others. There are also other very prevalent disorders that are associated with calcium calculi, such as arterial hypertension, obesity and loss of bone mineral density. A correct diagnosis needs to be obtained through examining the serum and urinary parameters of mineral metabolism in order to carry out adequate prevention and treatment of this condition. Once the metabolic diagnosis is known, it is possible to establish dietary and pharmacological treatment that may enable monitoring of the disease and prevent recurrence of stone formation. Some advances in treating this pathological condition have been made, and these include use of sodium alendronate in patients with calcium renal lithiasis and osteopenia/osteoporosis, or use of a combination of a thiazide with a bisphosphonate. In summary, calcium renal lithiasis often requires multidrug treatment with strict control and follow-up of patients.
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Combination of fibrin-agarose hydrogels and adipose-derived mesenchymal stem cells for peripheral nerve regeneration.
J Neural Eng
PUBLISHED: 03-26-2013
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The objective was to study the effectiveness of a commercially available collagen conduit filled with fibrin-agarose hydrogels alone or with fibrin-agarose hydrogels containing autologous adipose-derived mesenchymal stem cells (ADMSCs) in a rat sciatic nerve injury model.
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Lysophosphatidic acid receptor inhibition as a new multipronged treatment for rheumatoid arthritis.
Ann. Rheum. Dis.
PUBLISHED: 03-13-2013
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To investigate the effect of lysophosphatidic acid (LPA) receptor inhibition in a mouse model of autoantibody-mediated arthritis.
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Cutaneous adverse events during treatment of chronic inflammatory rheumatic conditions with tumor necrosis factor antagonists: study using the spanish registry of adverse events of biological therapies in rheumatic diseases.
Arthritis Care Res (Hoboken)
PUBLISHED: 02-26-2013
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To analyze the incidence rate (IR) and risk factors of cutaneous adverse events (CAE) in patients with chronic inflammatory rheumatic diseases treated with tumor necrosis factor (TNF) antagonists.
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Association between a MYH9 polymorphism (rs3752462) and renal function in the Spanish RENASTUR cohort.
Gene
PUBLISHED: 02-12-2013
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The MYH9 gene encodes a protein that is expressed in the kidney glomerular podocytes. MYH9 single nucleotide polymorphisms (SNPs) have been linked to the risk for chronic kidney disease (CKD) and end stage renal disease. Our aim was to determine whether MYH9 SNPs were associated with renal disease in Spanish Caucasians. The RENASTUR cohort consisted of 592 Spanish Caucasians, aged 55-85 years. They were genotyped for SNPs rs3752462 and rs4821480, which tagged haplotype E. The main values between individuals with a glomerular filtration rate (eGFR) <60 and ? 60 ml/min/1.73 m(2) were statistically compared. The next variables were significantly associated with the eGFR in the univariate analysis: age, gender, type 2 diabetes, total cholesterol, total LDL-cholesterol, and the MYH9 rs3752462 (TC+TT genotypes; p=0.003). This SNP remained significantly associated with the eGFR in the multivariate analysis. In conclusion, SNP rs3752462 was an independent predictor of reduced eGFR in the Spanish RENASTUR population. The genotyping of this MYH9 SNP could help to identify individuals at risk of developing CKD.
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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.