297 research outputs found
Editorial: Diagnosis, prevention and treatment in diabetic nephropathy
No full textDiabetic nephropathy (DN) is one of the microvascular complications of diabetes affecting 30-40% of diabetic patients and represents the leading cause of end-stage kidney disease (ESKD). Treatment strategies are rare. Given the significant healthcare impact and high economic burden of DN, there is an urgent need for adequate and targeted management of the disease for early diagnosis and prevention of progression to ESKD.
Articles of this Research Topic provide a general overview of DN, highlight the importance of early detection of this disease, and suggest new diagnostic tools and treatment strategies
Correction for Rando et al., “Pathogenesis, Symptomatology, and Transmission of SARS-CoV-2 through Analysis of Viral Genomics and Structure”
No full textVolume 6, no. 5, e00095-21, 2021, https://doi.org/10.1128/mSystems.00095-21. The author byline and affiliations should appear as shown in this correction. Page 3: The following should be added to the Fig. 1 legend. ‘This figure was adapted from “Human Coronavirus Structure,” by BioRender.com (2020), retrieved from https://app .biorender.com/biorender-templates.’ Page 21: In the 2nd paragraph of Acknowledgements, “S.M.B. is currently an employee at AstraZeneca, Gaithersburg, MD, USA, and may own stock or stock options; work was initially conducted at Georgetown University Medical Center, with writing, reviewing, and editing continued while working at AstraZeneca. Y.P. is now employed by Pfizer (subsequent to contributions to this project).” should read “S.M.B. is currently an employee at AstraZeneca, Gaithersburg, MD, USA, and may own stock or stock options. Y.P. is affiliated with Pfizer Worldwide Research; the author has no financial interests to declare and contributed as an author prior to joining Pfizer, and the work was not part of a Pfizer collaboration nor was it funded by Pfizer.” Copyright © 2022 Rando et al
Recensione di D. Rando, Venezia medievale nella Modernità. Storici e critici della cultura europea fra Otto e Novecento, Viella, Roma 2014,
No full textrecensione di un importante volume sulla storiografia veneziana dell'Ottocento e Novecent
Chromosomal assembly and comparative analysis of the red fox (Vulpes vulpes) genome
No full textIn the early days of genomics, the development of a reference genome was an expensive, collaborative undertaking reserved only for traditional and popular model organisms; however, in a theoretical shift highlighted most clearly by the goals of the Genome 10K Project, the advent of next-generation sequencing (NGS) technology has resulted in a shift of focus towards the development of reference genomes for a variety of species less commonly studied. One non-traditional model organism selected as a priority species for the Genome 10K Project is the red fox (Vulpes vulpes), and specifically a fox from an experimental breeding project in which silver foxes (a melanistic variant of the red fox) have been selected over the past several decades to exhibit extreme behavioral phenotypes. The population consists of a strain of hyper-aggressive foxes and a strain of hyper-docile foxes, offering a model system through which the genetic underpinnings of behavior, as well as the genetic correlates of domestication, can be investigated.
The draft red fox genome, which was developed at BGI, has a sequence depth of 94x and is assembled into 676,878 scaffolds with an N50 of 11.80 Mbp. However, in order for the reference genome to be integrated with previous work in the model system, it is necessary to understand the relationship between the scaffolds and the chromosomes they comprise. Therefore, the primary goal of the present study was to assemble the fox chromosomes from the scaffolds of the draft red fox genome assembly.
The draft genome was first analyzed to detect bioinformatic errors known to occur in NGS-assembled genomes that might influence the integrity of the chromosome assembly. Based on these findings, the 500 largest scaffolds were assembled into the 17 fox chromosomes (16 autosomes and the X) based both on nucleotide-level synteny among the fox, dog, and cat identified through pairwise alignment of the reference genomes and on interspecies synteny reported in previously developed comparative maps. The result of the current analysis is the development of a new version of the red fox reference genome that will serve as a valuable tool in ongoing research by increasing the resolution at which mapping studies can probe the genetic architecture of complex behavioral phenotypes in the domesticated fox system.Submission published under a 24 month embargo labeled 'U of I only', the embargo will last until 2017-08-01The student, Halie Rando, accepted the attached license on 2015-07-21 at 12:21.The student, Halie Rando, submitted this Thesis for approval on 2015-07-21 at 13:50.This Thesis was approved for publication on 2015-07-21 at 14:34.DSpace SAF Submission Ingestion Package generated from Vireo submission #8585 on 2015-09-29 at 15:00:54Made available in DSpace on 2015-09-29T20:50:22Z (GMT). No. of bitstreams: 3
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Genomic response to selection for behavior
No full textThe red fox (Vulpes vulpes) is a model of significant interest to social behavior genomics because of an experimental breeding project that began in the mid-20th century at the Institute for Cytology and Genetics in Novosibirsk, Russia. In this experiment, foxes acquired from fox farms were bred into two lines: one that displays prosocial, tame behavior and one that is fearfully aggressive towards humans. Today, the two lines exhibit stark behavioral differences known to have a genetic basis. The short time period that has elapsed since the beginning of fox farming (125 years) also renders the fox a potential model for the genomic response to the process of domestication. However, the identification of genes or genetic variants influencing behavior under selective breeding and/or domestication has long been limited by the lack of red fox genomic resources. Although the genome of a male fox was recently sequenced and assembled, this draft assembly is likely to be affected by errors characteristic of assembly from short next-generation sequencing reads.
Here, the refinement of the draft genome, the development of red fox genomic resources, and preliminary behavior genetic analyses are described. In chapter 2, the scaffolds (i.e., short sequence fragments) that comprise the draft red fox reference assembly were assembled into 40 fragments on the scale of chromosome arms that constitute the autosomes and X-chromosome. In chapter 3, scaffolds containing Y-chromosome sequence were also identified. Both of these chapters contextualize the red fox chromosomes among those of other carnivores, and chapter 4 describes the application of the Y-chromosome sequence to the confirmation of the farm-bred foxes’ ancestral population. In chapter 5, genome-wide variation in farm-bred foxes and their closest wild relatives is analyzed to identify a dense set of genetic variants and to conduct a preliminary analysis of putative regions under selection during the domestication of red foxes, revealing known and novel candidate genes associated with fox breeding. Finally, chapter 6 describes the high-resolution characterization of variation within and among 83 tame and aggressive individuals and a preliminary analysis to identify regions under selection during selective breeding for tame and aggressive human-directed behavior.
The advances in red fox genomic tools described here provide a foundation for the analysis of the red fox’s genetic response to selection for behavior. This work expands on and provides new resources for the study of chromosomal evolution (chapters 2 and 3), population history (chapters 4 and 5), and response to selection for behavior (chapters 5 and 6) in the red fox. This work therefore represents a significant step towards the realization of a red fox model for social behavior genomics that can be used to investigate the genetic architecture of social behavior and to identify loci regulating behavioral variation, with the ultimate goal of identifying loci influencing social behavior and domestication in mammals broadly.Submission published under a 24 month embargo labeled 'U of I Access', the embargo will last until 2021-12-01The student, Halie Rando, accepted the attached license on 2019-09-20 at 16:27.The student, Halie Rando, submitted this Dissertation for approval on 2019-09-20 at 16:49.This Dissertation was approved for publication on 2019-09-27 at 14:53.DSpace SAF Submission Ingestion Package generated from Vireo submission #14464 on 2020-02-28 at 17:20:25Made available in DSpace on 2020-03-02T22:12:07Z (GMT). No. of bitstreams: 3
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A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
No full textBackground: The commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable through direct sequencing. The remaining mutations (about 2%) are thought to be pure intronic rearrangements/mutations or 5'-3' UTR changes. In order to screen the huge DMD gene for all types of copy number variation mutations we designed a novel custom high density comparative genomic hybridisation array which contains the full genomic region of the DMD gene and spans from 100 kb upstream to 100 kb downstream of the 2.2 Mb DMD gene.Results: We studied 12 DMD/BMD patients who either had no detectable mutations or carried previously identified quantitative pathogenic changes in the DMD gene. We validated the array on patients with previously known mutations as well as unaffected controls, we identified three novel pure intronic rearrangements and we defined all the mutation breakpoints both in the introns and in the 3' UTR region. We also detected a novel polymorphic intron 2 deletion/duplication variation. Despite the high resolution of this approach, RNA studies were required to confirm the functional significance of the intronic mutations identified by CGH. In addition, RNA analysis identified three intronic pathogenic variations affecting splicing which had not been detected by the CGH analysis.Conclusion: This novel technology represents an effective high throughput tool to identify both common and rarer DMD rearrangements. RNA studies are required in order to validate the significance of the CGH array findings. The combination of these tools will fully cover the identification of causative DMD rearrangements in both coding and non-coding regions, particularly in patients in whom standard although extensive techniques are unable to detect a mutation
Dietary Risk Factors and Eating Behaviors in Peripheral Arterial Disease (PAD)
No full textDietary risk factors play a fundamental role in the prevention and progression of atherosclerosis and PAD (Peripheral Arterial Disease). The impact of nutrition, however, defined as the process of taking in food and using it for growth, metabolism and repair, remains undefined with regard to PAD. This article describes the interplay between nutrition and the development/progression of PAD. We reviewed 688 articles, including key articles, narrative and systematic reviews, meta-analyses and clinical studies. We analyzed the interaction between nutrition and PAD predictors, and subsequently created four descriptive tables to summarize the relationship between PAD, dietary risk factors and outcomes. We comprehensively reviewed the role of well-studied diets (Mediterranean, vegetarian/vegan, low-carbohydrate ketogenic and intermittent fasting diet) and prevalent eating behaviors (emotional and binge eating, night eating and sleeping disorders, anorexia, bulimia, skipping meals, home cooking and fast/ultra-processed food consumption) on the traditional risk factors of PAD. Moreover, we analyzed the interplay between PAD and nutritional status, nutrients, dietary patterns and eating habits. Dietary patterns and eating disorders affect the development and progression of PAD, as well as its disabling complications including major adverse cardiovascular events (MACE) and major adverse limb events (MALE). Nutrition and dietary risk factor modification are important targets to reduce the risk of PAD as well as the subsequent development of MACE and MALE
Principal predictors of major adverse limb events in diabetic peripheral artery disease: A narrative review
No full textBackground and aims: The increasing prevalence of diabetes mellitus is causing a massive growth of peripheral artery disease incidences, a disabling complication of diabetic atherosclerosis, which leads often to the amputation of the affected limb. Critical limb ischemia is the terminal disease stage, which requires a prompt intervention to relieve pain and save limbs. However, patients undergoing revascularization often suffer from cardiovascular, cerebrovascular and major adverse limb events with poor outcomes. Furthermore, the same procedure performed in apparently similar patients has various outcomes and lack of an outcome predictive support causes a high lower limb arterial revascularization rate with disastrous effects for patients. We collected the main risk factors of major adverse limb events in a more readable and immediate format of the topic, to propose an overview of parameters to manage effectively peripheral artery disease patients and to propose basics of a new predictive tool to prevent from disabling vascular complications of the disease. Methods: Most recent and updated literature about the prevalence of major adverse limb events in peripheral artery disease was reviewed to identify possible main predictors. Results: In this article, we summarized major risk factors of limb revascularization failure and disabling vascular complications collecting those parameters principally responsible for major adverse limb events, which provides physio-pathological explanation of their role in peripheral artery disease. Conclusion: We evaluated and listed a panel of possible predictors of MALE (Major Adverse Limb Event) in order to contribute to the development of a predictive score, based on a summary of the main risk factors reported in scientific articles, which could improve the management of peripheral artery disease by preventing vascular accidents
Radiation protection of staff in 111in radionuclide therapy-Is the lead apron shielding effective?
No full text111In (Eγ5171-245 keV, t1/2=2.83 d) is used for targeted therapies of endocrine tumours. An average activity of 6.3 GBq is injected into the liver by catheterisation of the hepatic artery. This procedure is time-consuming (4-5 min) and as a result, both the physicians and the technical staff involved are subjected to radiation exposure. In this research, the efficiency of the use of lead apron has been studied as far as the radiation protection of the working staff is concerned. A solution of 111In in a cylindrical scattering phantom was used as a source. Close to the scattering phantom, an anthropomorphic male Alderson RANDO phantom was positioned. Thermoluminescent dosemeters were located in triplets on the front surface, in the exit and in various depths in the 26th slice of the RANDO phantom. The experiment was repeated by covering the RANDO phantom by a lead apron 0.25 mm Pb equivalent. The unshielded dose rates and the shielded photon dose rates were measured. Calculations of dose rates by Monte Carlo N-particle transport code were compared with this study's measurements. A significant reduction of 65 % on surface dose was observed when using lead apron. A decrease of 30 % in the mean absorbed dose among the different depths of the 26th slice of the RANDO phantom has also been noticed. An accurate correlation of the experimental results with Monte Carlo simulation has been achieved. © The Author 2011. Published by Oxford University Press. All rights reserved
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