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Current Challenges in Cardiovascular Molecular Diagnostics

Authors: --- --- --- --- et al.
Book Series: Frontiers Research Topics ISSN: 16648714 ISBN: 9782889452811 Year: Pages: 128 DOI: 10.3389/978-2-88945-281-1 Language: English
Publisher: Frontiers Media SA
Subject: Medicine (General)
Added to DOAB on : 2018-02-27 16:16:44
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The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting with cardiac muscle diseases such as cardiomyopathies or primary arrhythmias such as long QT syndrome (LQTS), may harbor at least two deleterious variants in the same gene (compound heterozygous) or in different gene (double heterozygous). Although the clinical presentation in subjects with more than one deleterious variant appears to be more severe and with an earlier disease onset, it somehow changes the viewpoint of clinical molecular geneticists whose aim is to identify all possible genetic contributors to a human condition. In this light, the employment in clinical diagnostics of the NGS technology, allowing the simultaneous interrogation of a DNA target spanning from large panel of genes up to the entire genome, will definitely aid at uncovering all such contributors, which will have to be tested functionally to confirm their role in human cardiac conditions. The uncovering of all clinically relevant deleterious changes associated with a cardiovascular disease would probably increase our understanding of the clinical variability commonly occurring among affected family relatives, and potentially provide with unexpected therapeutic targets for the treatment of symptoms related to the presence of “accessory” deleterious genetic variants other than the key molecular culprit. The objective of this Research Topic is to explore the current challenges presenting to the cardiovascular genetics providers, such as clinical geneticists, genetic counselors, clinical molecular geneticists and molecular pathologists involved in the diagnosis, counseling, testing and interpretation of genetic tests results for the comprehensive management of patients affected by cardiovascular genetic disorders.

New Insights into Parvovirus Research

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ISBN: 9783039283101 / 9783039283118 Year: Pages: 342 DOI: 10.3390/books978-3-03928-311-8 Language: eng
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Medicine (General) --- Internal medicine
Added to DOAB on : 2020-06-09 16:38:57
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Viruses in the Parvoviridae family constitute one of the most diverse and intriguing fields of research. While they all share an ssDNA genome and a small capsid, they can differ widely in structure, genome organization and expression, virus–cell interaction, and impact on the host. Exploring such diversity and unraveling the inherent complexity in these apparently simple viruses is an ongoing endeavor and commitment for the scientific community. The translational implications of research on parvoviruses are relevant. Within the family, some viruses are important human and veterinary pathogens, in need of diagnostic methods and antiviral strategies; other viruses have long been studied and engineered as tools for oncolytic therapy, or as sophisticated gene delivery vectors, and can now display their wide and expanding applicative potential. This Special Issue of Viruses collects recent contributions in the field of parvovirus research, with a focus on new insights and research on unresolved issues, as well as new approaches exploiting systemic methodologies. Evolution, structural biology, viral replication, virus–host interaction, pathogenesis and immunity, and viral oncotherapy are a selection of the topics addressed in the issue that can be of relevance to the community involved in parvovirus research and of interest to a wider audience.

Keywords

human bocavirus --- children --- acute gastroenteritis --- parvovirus --- human bocavirus 1 --- RNA-seq --- transcription profile --- human airway epithelia --- AAV2 --- adeno-associated virus --- bisulfite PCR --- CpG methylation --- DNA virus --- Parvoviridae --- telbivudine --- B19V --- circulating angiogenic cells --- apoptosis --- caspase-3 --- BIRC3 (cIAP-2) --- parvovirus --- viral metagenomics --- virus diversity --- virus phylogeny --- agricultural pests --- arthropod --- mite --- viral communities --- viral ecology --- Carnivore protoparvovirus 1 --- canine parvovirus --- feline panleukopenia virus --- NS1 --- NS2 --- sequence analysis --- evolution --- Bombyx mori bidensovirus --- RACE --- RT-qPCR --- transcription mapping --- overlapping promoters --- parvovirus --- densovirus --- single stranded DNA virus --- X-ray crystallography --- Cryo-EM --- antibody interactions --- receptor interactions --- parvovirus --- viral metagenomics --- canine chapparvovirus --- Adeno-associated virus --- AAV --- protease --- phospholipase-A2 --- PLA2 --- rodent protoparvoviruses --- oncolytic activity --- tumor microenvironment --- immunomodulation --- preclinical --- clinical trials --- B19V --- parvovirus --- uncoating --- divalent cations --- capsid stability --- genome externalization --- trafficking --- nuclear targeting --- equine parvovirus-hepatitis --- horses --- commercial horse serum --- phylogeny --- chapparvovirus --- parvovirus evolution --- endogenous viral elements --- Parvoviridae --- densovirus --- homology modeling --- new viruses --- oncolytic virus immune therapy --- rodent protoparvoviruses --- H-1PV --- combination therapies --- second generation parvovirus treatments --- parvovirus B19 --- B19V --- erythrovirus --- diagnosis --- dilated cardiomyopathy --- inflammatory cardiomyopathy --- myocarditis --- prognosis --- parvovirus B19 --- erythroid progenitor cells --- antiviral compounds --- intravenous immunoglobulin (IVIG) --- hydroxyurea --- cidofovir --- brincidofovir --- coumarin derivatives --- flavonoids --- alpaca --- virus --- Bocaparvovirus --- genome --- next-generation sequencing --- metagenomics --- parvovirus B19 --- adenoviral vector --- cell cycle arrest --- apoptosis --- anti-cancer --- insect --- Lepidoptera --- insect parvovirus --- chitin --- peritrophins --- glycans --- biocontrol --- parvovirus --- structural biology --- genetics --- oncolytic viruses --- antivirals

Mitochondrial Dysfunction in Aging and Diseases of Aging

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ISBN: 9783039213276 9783039213283 Year: Pages: 270 DOI: 10.3390/books978-3-03921-328-3 Language: English
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Science (General) --- Biology
Added to DOAB on : 2019-12-09 11:49:15
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This collection of review articles authored by international experts pulls together current information about the role of mitochondria in aging and diseases of aging. Mitochondria are vitally important cellular organelles and undergo their own aging process becoming less efficient in aged animals including humans. These changes have wide-ranging significance contributing to immune dysfunction (autoimmunity and immune deficiency), inflammation, delayed healing, skin and retinal damage, cancer and most of the degenerative diseases of aging. Mitochondrial aging predisposes to drug toxicity in the geriatric population and to many of the features of normal aging. The research detailed in this book summarizes current understanding of the role of mitochondria in the complex molecular changes of aging, moving on to specific diseases of aging. Mitochondrial dysfunction is an important target for development of treatments for aging and disease. The last article details how exercise is a treatment and combats many features of the aging process.

Keywords

aging --- mitochondria --- inflammation --- innate immunity --- adaptive immunity --- immunosenescence --- cell danger response --- healing cycle --- mitochondria --- purinergic signaling --- metabokines --- sphingolipids --- integrated cell stress response --- de-emergence --- crabtree effect --- pasteur effect --- coenzyme Q10 --- aging --- age-related diseases --- mitochondrial dysfunction --- mitochondria --- skin --- ageing --- reactive oxygen species --- photoageing --- 25(OH)D --- 1,25(OH)2D --- aging --- cytokines --- inflammation --- morbidity and mortality --- prevention --- reactive oxygen species --- ultraviolet --- aging --- mitochondria --- retina --- optic nerve --- diabetic retinopathy --- age-related macular degeneration --- glaucoma --- drug-induced mitochondrial toxicity --- polypharmacy --- aging --- mitochondrial dysfunction --- insulin resistance --- type 2 diabetes --- mitochondrial transfer --- exosomes --- mitochondrial --- genetic mutations --- cardiovascular disease --- heart failure --- cardiomyopathy --- mitochondria --- cancer --- nucleotide metabolism --- DNA damage --- NAD+ --- mitochondria --- ALS --- axonal transport --- mitophagy --- SOD1 --- Miro1 --- PINK1 --- Parkin --- multiple sclerosis --- mitochondria --- neuroinflammation --- neurodegeneration --- Parkinson’s disease --- mitochondria --- ageing --- neurodegenerative disease --- Alzheimer’s disease --- eIF2? --- metabolism --- mitochondria --- proteostasis --- stress response --- aging --- exercise --- mitochondria --- aerobic --- ROS --- inflammation --- senescence --- lysosome --- autophagy --- mitophagy --- n/a

Protective and Detrimental Role of Heme Oxygenase-1

Author:
ISBN: 9783039218066 9783039218073 Year: Pages: 220 DOI: 10.3390/books978-3-03921-807-3 Language: English
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Medicine (General) --- Therapeutics
Added to DOAB on : 2019-12-09 11:49:16
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The book “Protective and Detrimental Role of Heme Oxygenase-1”, includes a selection of original research papers and reviews aimed at understanding the dual role (protective and detrimental) of HO-1 and the involved signaling pathways. Original research papers and reviews aimed at the identification of natural molecules or new synthetic compounds able to modulate HO-1 activity/expression help make HO-1 a potential therapeutic target for the amelioration of various diseases.

Keywords

ferroptosis --- heme oxygenase-1 --- iron --- reactive oxygen species --- glutathione --- chemotherapy --- paracetamol --- Myristica fragrans kernels --- heme oxygenase 1 --- liver --- glucocorticoid receptor --- GR --- heme oxygenase 1 --- HO-1 --- prostate cancer --- ANTIGEN presenting cell --- tolerance --- Tet-ON system --- antigen presentation --- analgesia --- carbon monoxide --- heme oxygenase 1 --- inflammatory pain --- locus coeruleus --- nitric oxide --- bilirubin --- Gunn rats --- hyperbilirubinemia --- inflammation --- LPS --- NF-?B --- caloric restriction --- Sirtuin 1 --- Heme Oxygenase-1 --- PGC-1? --- cardiomyopathy --- diabetes mellitus --- Type 1 diabetes mellitus (T1D) --- Pancreatic oxidative damage --- Heme oxygenase-1 (HO-1) inducers --- Caffeic acid phenethyl ester (CAPE) --- Reactive oxygen species (ROS) --- Dimethylarginine dimethylaminohydrolase-1 (DDAH-1) --- Inducible nitric oxide synthase (iNOS) --- Gamma-Glutamyl-Cysteine Ligase (GGCL) --- prostate cancer --- heme oxygenase --- metformin --- apoptosis --- ER stress --- HO-1 activity inhibitor --- carbon monoxide --- lung preservation --- ischemia–reperfusion injury --- high-pressure gas --- Colon cancer --- Betula etnensis Raf. --- oxidative stress --- heme oxigenase-1 --- ferroptosis --- thiol groups --- angiotensin II --- mineralocorticoid receptor --- heme oxygenase 1 --- sirtuin 1 --- adipocytes --- oxidative stress --- heme oxygenase-1 --- atherosclerosis --- coronary artery disease --- peripheral artery disease --- carotid plaque --- heme oxygenase --- endoplasmic reticulum stress --- hemoglobin --- heme --- n/a

Novel Aspects of Lipoprotein Metabolism with Focus on Systemic Inflammation

Author:
ISBN: 9783039282142 9783039282159 Year: Pages: 248 DOI: 10.3390/books978-3-03928-215-9 Language: English
Publisher: MDPI - Multidisciplinary Digital Publishing Institute
Subject: Medicine (General)
Added to DOAB on : 2020-04-07 23:07:09
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With cardiometabolic diseases still topping the list of mortality causes and in facing the obesity and diabetes epidemic, there remains a great need to better understand the pathophysiological derangements underlying these conditions. During the past years, it has become increasingly appreciated that low grade systemic inflammation is a common hallmark of cardiometabolic disorders—not only concerning diabetes and atherosclerotic cardiovascular disease but also involving non-alcoholic fatty liver disease. Recently developed high-throughput laboratory techniques for lipidomics and metabolomics have enabled researchers to discern novel crosstalk pathways between lipid phenotypes and enhanced chronic inflammation. With this Special Issue of the Journal of Clinical Medicine, entitled “Novel Aspects of Lipoprotein Metabolism with a Focus on Systemic Inflammation”, researchers were invited to submit original papers and reviews on various topics, in particular, at the interface of lipid metabolism and inflammation.

Keywords

carbamoylation --- chronic kidney disease --- lipoproteins --- infrared spectroscopy --- Breast cancer --- cholesterol --- 27-hydroxycholesterol --- HDL --- LDL --- cholesterol-lowering therapies --- biomarker --- anti-apolipoprotein A-1 antibodies --- renal transplant recipient --- HDL function --- prognosis --- cholesterol --- acute coronary syndrome --- biomarkers --- anti-apolipoprotein A-I autoantibodies --- GRACE score --- C-statistics --- adipose tissue --- ANGPTL3 --- ANGPTL4 --- ANGPTL8 --- lipid metabolism --- cholesterol efflux capacity --- coronary artery calcium score --- obesity --- anti-apoA-1 IgG --- autoantibodies --- cardiovascular disease --- C-reactive protein --- HDL --- paraoxonase-1 --- cardiovascular disease --- myocardial infarction --- diabetic cardiomyopathy --- cytokines --- interleukin 1? --- inflammation --- CANTOS --- canakinumab --- retinol binding protein 4 --- retinol --- lipoprotein subfractions --- large VLDL --- small LDL --- Type 2 diabetes mellitus --- metabolic syndrome --- nuclear magnetic resonance spectroscopy --- betaine --- trimethylamine N-oxide related metabolites --- nuclear magnetic resonance spectroscopy --- type 2 diabetes mellitus --- anti-apolipoprotein A-1 IgG --- familial hypercholesterolemia --- cholesterol homeostasis --- foam cells --- miR-33a --- TLR2/4 --- passive diffusion --- microvesicles --- inflammation --- lipoproteins --- LDL cholesterol --- microparticles --- cardiovascular disease --- platelets --- endothelial cells --- leukocytes --- atherothrombosis --- HDL --- lipids --- inflammation --- atherosclerotic cardiovascular disease (ASCVD) --- cardiovascular events --- GlycA --- non-alcoholic fatty liver --- sodium intake --- insulin resistance --- fatty liver index --- hepatic steatosis index --- HOMA-IR --- gut microbiota --- lipoprotein metabolism --- metabolic disorder --- adiponectin --- free thiols --- nuclear magnetic resonance spectroscopy --- phospholipid transfer protein activity --- triglycerides --- type 2 diabetes mellitus --- large very low density lipoproteins --- ANGPTL8 --- visceral adipose tissue (VAT) --- obesity --- endothelial cells

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