Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease
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Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease
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Author : Iain P. Hargreaves
language : en
Publisher: MDPI
Release Date : 2018-10-16
Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease written by Iain P. Hargreaves and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-10-16 with Science categories.
This book is a printed edition of the Special Issue "Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease" that was published in JCM
Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease
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Author : Iain Hargreaves
language : en
Publisher:
Release Date : 2018
Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease written by Iain Hargreaves and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018 with categories.
Mitochondrial disease constitutes a complex and heterogeneous group of disorders resulting from a defect in mitochondrial respiratory chain (MRC) enzyme activity. In view of the dual regulation of the MRC, exercised by both the mitochondrial and nuclear genome, mutations in either mitochondrial or nuclear DNA can result in a MRC deficiency. Whilst a single organ can be affected, MRC disorders often result in a multi-organ system presentation with prominent neurological and myopathic features. The diagnosis of MRC disorders can be complex, and requires a coordinated interplay of a number of disciplines. However, biochemical determination of metabolites in blood, cerebral spinal fluid (CSF) and/or urine are generally considered to be first-line investigations for the diagnosis of these disorders, although they lack sensitivity and specificity. Furthermore, there is a lack of consensus on the overall utility of monitoring other biochemical parameters, which may be of diagnostic value. For example, although oxidative stress may contribute to the pathogenesis of mitochondrial disorders, few centers monitor this as part of their diagnostic repertoire. Therefore, the purpose of this Special Issue was to highlight potential biomarkers of mitochondrial disease and to discuss the appropriateness of biochemical markers to monitor disease progression and therapeutic intervention.
Current Trends In The Diagnosis And Management Of Metabolic Disorders
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Author : Seth Kwabena Amponsah
language : en
Publisher: CRC Press
Release Date : 2023-12-14
Current Trends In The Diagnosis And Management Of Metabolic Disorders written by Seth Kwabena Amponsah and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-12-14 with Medical categories.
This volume provides an overview of the biochemical basis of metabolic diseases and molecular basis of chemical pathologies. Metabolic disorders occur when metabolic processes in the body are disrupted. They contribute a significant burden to human health globally. They can be congenital or acquired, for example, diabetes mellitus, obesity, metabolic syndrome, osteoporosis, osteopenia, mild-moderate hypovitaminosis D, erectile dysfunction, dyslipidemia, and thyroiditis. Metabolic disorders have gained significant importance due to the exponential increase in obesity worldwide. Early diagnosis of metabolic disorders is important in order to employ lifestyle and risk factor modification. Features: An overview of the biochemical basis of metabolic diseases and molecular basis of chemical pathologies Describes recent trends in diagnosis of metabolic disorders Discusses management and treatment of metabolic diseases Allows quick identification and retrieval of material by researchers learning the efficacy, associated dosage and toxicity of each of the classes of compounds Suitable globally for graduate and postgraduate students studying metabolic diseases
Diagnosis And Management Of Mitochondrial Disorders
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Author : Michelangelo Mancuso
language : en
Publisher: Springer
Release Date : 2019-05-03
Diagnosis And Management Of Mitochondrial Disorders written by Michelangelo Mancuso and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-05-03 with Medical categories.
This book will help readers navigate the complexity of mitochondrial disorders, by addressing the role of mitochondrial dysfunction and the complex pathophysiological mechanisms associated with a growing number of illnesses, not only of neurological interest. Further, it provides updated concepts on genotype-phenotype correlations, clinical syndromes, diagnostic algorithms and therapies. Written by the world’s foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists and biologists.
Mitochondrial Dysfunction
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Author : Lawrence H. Lash
language : en
Publisher: Elsevier
Release Date : 2013-10-22
Mitochondrial Dysfunction written by Lawrence H. Lash and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-10-22 with Science categories.
Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnormal mitochondrial function in cell injury. The book discusses the methods for the preparation and basic functional assessment of mitochondria from liver, kidney, muscle, and brain; the methods for assessing mitochondrial dysfunction in vivo and in intact organs; and the structural aspects of mitochondrial dysfunction are addressed. The text also describes chemical detoxification and metabolism as well as specific metabolic reactions that are especially important targets or indicators of damage. The methods for measurement of alterations in fatty acid and phospholipid metabolism and for the analysis and manipulation of oxidative injury and antioxidant systems are also considered. The book further tackles additional methods on mitochondrial energetics and transport processes; approaches for assessing impaired function of mitochondria; and genetic and developmental aspects of mitochondrial disease and toxicology. The text also looks into mitochondrial DNA synthesis, covalent binding to mitochondrial DNA, DNA repair, and mitochondrial dysfunction in the context of developing individuals and cellular differentiation. Microbiologists, toxicologists, biochemists, and molecular pharmacologists will find the book invaluable.
Mitochondrial Diseases
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Author :
language : en
Publisher: Elsevier
Release Date : 2023-02-20
Mitochondrial Diseases written by and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-02-20 with Medical categories.
Mitochondrial Diseases, Volume 194 presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, genetic counseling and treatment options in mitochondrial diseases. Contents include specialist biochemical analyses and targeted molecular genetic testing, as well as first-line genome-wide sequencing to accelerate speed of diagnosis while avoiding time-consuming, expensive and invasive investigations. Establishing a genetic diagnosis allows patients with mitochondrial diseases to have reproductive options, all of which are covered within.This book is intended for neurologists to help them recognize and manage patients with mitochondrial diseases. - Examines the pathophysiology of mitochondrial diseases and disorders - Focuses on neurological symptoms of mitochondrial diseases - Presents myopathies, neuropathies, epilepsy, ataxia, paraplegias, and more - Covers histology, metabolism, genetic, and neuroimaging diagnostics - Summarizes both available and emerging therapies - Includes clinical trials, the use of biomarkers and reproductive options
Current Challenges In Cardiovascular Molecular Diagnostics
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Author : Matteo Vatta
language : en
Publisher: Frontiers Media SA
Release Date : 2017-09-12
Current Challenges In Cardiovascular Molecular Diagnostics written by Matteo Vatta and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-09-12 with categories.
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.
Application Of Omic Techniques To Identify New Biomarkers And Drug Targets For Covid 19
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Author : Paul C. Guest
language : en
Publisher: Springer Nature
Release Date : 2023-06-28
Application Of Omic Techniques To Identify New Biomarkers And Drug Targets For Covid 19 written by Paul C. Guest and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-06-28 with Medical categories.
The COVID-19 pandemic caused by the SARS-CoV-2 virus has affected nearly every country and territory in the world. Although worldwide vaccination efforts have reduced the risk of serious disease outcomes, disparities in distribution have led to multiple waves of SARS-CoV-2 outbreaks and the emergence of variants of concern, some of which have enhanced infectivity and ability to evade existing vaccines. Hence there is an increasing interest in understanding the evolution of viruses like SARS-CoV-2, as well as improving our capacity to effectively current and manage future pandemics. This new volume reviews the most effective omic techniques for increasing our understanding of COVID-19, to improve diagnostics, prognostics, and genomic surveillance, and to facilitate development of effective treatments and vaccines. Chapters are written by an international team of experts and explore methods in the areas of genomics, transcriptomics, proteomics, and metabolomics. Techniques used to assess physiological function at the molecular level and artificial intelligence approaches used for more effective validation and translation of biomarker candidates into clinical use are also discussed. This book is an excellent resource for researchers studying biomarkers, virology, metabolic diseases, and infectious diseases, as well as clinical scientists, physicians, drug company scientists, and healthcare workers.
Annals Of Clinical Biochemistry
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Author :
language : en
Publisher:
Release Date : 2003
Annals Of Clinical Biochemistry written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with Biochemistry categories.
Mitochondrial Disorders Caused By Nuclear Genes
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Author : Lee-Jun C. Wong
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-09-18
Mitochondrial Disorders Caused By Nuclear Genes written by Lee-Jun C. Wong and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-09-18 with Medical categories.
Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell, every tissue, mitochondrial disorder usually affects multiple organs.