Clinical Mitochondrial Medicine
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Clinical Mitochondrial Medicine
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Author : Patrick F. Chinnery
language : en
Publisher: Cambridge University Press
Release Date : 2018-05-17
Clinical Mitochondrial Medicine written by Patrick F. Chinnery and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-05-17 with Medical categories.
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Mitochondrial Medicine
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Author : Saskia Koene
language : en
Publisher:
Release Date : 2011
Mitochondrial Medicine written by Saskia Koene and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011 with categories.
Mitochondrial Medicine
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Author : Salvatore DiMauro
language : en
Publisher: CRC Press
Release Date : 2006-04-19
Mitochondrial Medicine written by Salvatore DiMauro and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006-04-19 with Medical categories.
Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently available in different specialties - thus making it essential reading for clinicians involved with the management of patients with mitochondrial diseases. A unique work, this text covers a range of specialties, including cardiology, ophthalmology, otology, nephrology, gastroenterology, hematology-oncology, and reproductive medicine, and does not focus exclusively on the more commonly known neurologic conditions. An accessible, user-friendly text, it also presents translational concepts of mitochondrial biogenesis and genetics in vignettes related to specific questions raised by the disease under discussion, rather than concentrating on basic science, which can often intimidate clinicians. This pioneering work is primarily directed to a clinical audience who are interested in the diverse and diagnostically challenging clinical presentations of mitochondrial diseases and their pathophysiology.
Mitochondrial Medicine
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Author : Salvatore DiMauro
language : en
Publisher: CRC Press
Release Date : 2019-11-26
Mitochondrial Medicine written by Salvatore DiMauro and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-11-26 with categories.
Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently available in different specialties - thus making it essential reading for clinicians involved with the management of patients with mitochondrial diseases. A unique work, this text covers a range of specialties, including cardiology, ophthalmology, otology, nephrology, gastroenterology, hematology-oncology, and reproductive medicine, and does not focus exclusively on the more commonly known neurologic conditions. An accessible, user-friendly text, it also presents translational concepts of mitochondrial biogenesis and genetics in vignettes related to specific questions raised by the disease under discussion, rather than concentrating on basic science, which can often intimidate clinicians. This pioneering work is primarily directed to a clinical audience who are interested in the diverse and diagnostically challenging clinical presentations of mitochondrial diseases and their pathophysiology.
Mitochondrial Medicine
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Author : Pankaj Prasun
language : en
Publisher: Academic Press
Release Date : 2019-05-18
Mitochondrial Medicine written by Pankaj Prasun and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-05-18 with Medical categories.
Mitochondrial Medicine: A Primer for Health Care Providers and Translational Researchers is an applied, holistic resource that addresses the evolving and multidisciplinary area of mitochondrial disease. The book discusses the fundamentals of mitochondrial medicine in humans, as well as the pathophysiology, diagnosis and treatment of mitochondrial diseases. Three all-inclusive sections examine the role of mitochondria in common medical conditions, such as diabetes, heart failure and the full range of inherited mitochondrial diseases. Sections cover the genetic and biochemical basis of both mitochondrial DNA deletion syndromes and point mutation syndromes, their clinical presentation, treatment plans, genetic counseling, prenatal testing, and ongoing research. While providing a solid foundation in its topic area, each chapter in the book is written in an accessible format with illustrative case studies, thus making it a quick bedside or clinical laboratory reference. Includes a basic introduction to mitochondria and their misfunctions in human disease Presents current practice and research in mitochondrial medicine, with an emphasis on clinical presentation, diagnosis, treatment, genetic counseling and prenatal testing Features short, accessible chapters with illustrative case studies for quick reference Provides thorough coverage of inherited mitochondrial disorders, as well as the role of mitochondria in common medical conditions
Advances In Mitochondrial Medicine
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Author : Roberto Scatena
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-02-09
Advances In Mitochondrial Medicine written by Roberto Scatena 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 2012-02-09 with Medical categories.
Mitochondria are far more than the “powerhouse” of the cell as they have classically been described. In fact, mitochondria biological activities have progressively expanded to include not only various bioenergetic processes but also important biosynthetic pathways, calcium homeostasis and thermogenesis, cell death by apoptosis, several different signal transduction pathways mainly related to redox control of gene expression and so on. This functional and structural complexity may undergo important derangements so to justify the definition of ‘mitochondrial medicine’, which should include all the clinical consequences of congenital or acquired mitochondrial dysfunctions. There are actually a growing number of studies which assign a significant pathogenic role to damaged mitochondria in different diseases: ischemia/reperfusion injury, neurodegenerative diseases, cancer with its dramatic sequelae (i.e, metastasis), metabolic syndrome, hyperlipidemias, just to mention a few of the most important pathologies. In this context, a further aspect that should not be disregarded is the interaction of pharmacological agents with mitochondria, not only in regard of the toxicological aspects but, above all, of the potential therapeutic applications. In fact, it is interesting to note that, while the properties of different so-called “mitoxicants” are well-known, the subtle linkages between drugs and mitochondria is still in need of a real pharmacological and therapeutic control at the clinical level. This lack of consideration can often lead to an underestimation of unwanted toxic effects but also of desirable therapeutic activities. A reevaluation of the potential clinical role of mitochondria could give a new light on some yet obscure aspects of human pathophysiology.
Mitochondrial Disorders
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Author : Claude Desnuelle
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-12-01
Mitochondrial Disorders written by Claude Desnuelle 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 2013-12-01 with Medical categories.
The concept of mitochondrial diseases originated in 1962 with the description by Luft and coworkers of a patient with nonthyroidal hypermetabolism due to loose coupling of oxidation and phosphorylation in muscle mitochondria. Over the following quarter of a century, thanks to W. King Engel's "ragged-red fibres" as convenient markers for mitochondrial pathology, numerous papers described clinical, morphological, and biochemical features of "mitochondrial myopathies." In 1988 the discovery of mutations in mitochondrial DNA led to an explosive expansion of research into mitochondrial disorders. Throughout the 1990s the rapid identification of multiple mitochondrial gene defects associated with clinically diverse disorders has left practitioners puzzled about diagnosing such heterogeneous and complex syndromes. Through updated data, this book discusses now what Luft aptly called "mitochondrial medicine." In so doing, it considers the pivotal role of mitochondria in drug sensitivity, their key roles in ageing, apoptosis, and neurodegeneration along with primary mitochondrial diseases due to mutations in the nuclear genome, in the mitochondrial genome, or in the cross-talk between the two genomes.
Mitochondrial Medicine
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Author : Anna Gvozdjáková
language : en
Publisher: Springer Science & Business Media
Release Date : 2008-02-01
Mitochondrial Medicine written by Anna Gvozdjáková 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 2008-02-01 with Medical categories.
Mitochondrial medicine deals with diseases that are related to mitochondrial dysfunction due to a number of causes from free radical damage to genetic mutation. This book is based on extensive data gathered over 30 years of clinical and experimental research. In it, internationally recognized authors share their experience in various fields of their expertise and guide readers through the disease process, from basic biochemical mechanisms to diagnosis to therapeutic aspects.
Mitochondrial Disease Genes Compendium
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Author : Marni J. Falk
language : en
Publisher: Academic Press
Release Date : 2020-04-28
Mitochondrial Disease Genes Compendium written by Marni J. Falk and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-04-28 with Science categories.
The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual’s disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR), an online, community curated, centralized data resource of mitochondrial disease data from a genomic perspective. MSeqDR provides tens of thousands of users with interactive access to mitochondrial disease feature descriptions in a defined human phenotype ontology, mitochondrial proteome-based gene and variant curation, and a suite of easily accessible tools to facilitate analysis of complex genomic datasets in nuclear and mitochondrial genomes as well as accurate interpretation of mitochondrial disease genes, variants, and diseases. Here, in the Mitochondrial Disease Genes Compendium, Dr. Marni Falk and a team of international experts have built off their work on MSeqDR to provide an all-in-one, readily accessible, and easy-to-use at point of care reference on mitochondrial disease from a gene-based perspective. In this book, clinicians and researchers will find a complete overview of mitochondrial disease genes relevant across all specialties, cataloging and building context around clinical features and the genetic basis of each condition. Within, each "gene page" offers an in-depth, referenced view of the relevant clinical disease spectrum, including gene and protein descriptions, year discovered, inheritance pattern(s), age ranges affected, major clinical features and severity range, clinical pearls, known therapies, available support groups, animal models, and gene-specific basic, translational, or clinical research activities now underway. Links provided on each gene page direct readers to MSeqDR for new findings, up-to-date genomic variant data, and user friendly informatics tools accessible to general clinicians and sophisticated geneticists or bioinformaticians alike, ensuring access to updated information on each condition. Covering 256 mitochondrial disease genes that have been expert-curated to assure they cause human diseases and have known mitochondrial localization or impact mitochondrial function, the Mitochondrial Disease Genes Compendium is directed at clinicians and researchers, facilitating bedside access to high-level, curated knowledge on mitochondrial disease genetics that rapidly enables patient diagnosis, counseling, management, treatment, and research. Provides a readily intelligible, all-in-one reference of known mitochondrial disease genes and their associated conditions Features live links to Mitochondrial Disease Sequence Data Resource (MSeqDR) pages with regularly updated genetic variant data and bioinformatics tools Covers the inheritance patterns, age spectrum affected, major clinical features, therapeutics, support groups, and research currently under way for over 250 mitochondrial diseases
Mitochondrial Medicine
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Author : Volkmar Weissig
language : en
Publisher: Humana Press
Release Date : 2015-01-29
Mitochondrial Medicine written by Volkmar Weissig and has been published by Humana Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-01-29 with Science categories.
This expert volume covers an interdisciplinary and rapidly growing area of biomedical research comprising genetic, biochemical, pathological, and clinical studies aimed at the diagnosis and therapy of human diseases which are either caused by or associated with mitochondrial dysfunction. It dedicates itself to showcasing the tremendous efforts and the progress that has been made over the last decades in developing techniques and protocols for probing, imaging, and manipulating mitochondrial functions. Mitochondrial Medicine: Volume I, Probing Mitochondrial Function focuses on methods being used for the assessment of mitochondrial function under physiological conditions as well as in healthy isolated mitochondria. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Comprehensive and practical, Mitochondrial Medicine provides an essential source of know-how and inspiration to all researchers who are fascinated by this tiny organelle that seems so clearly to control the life and death of a single cell and whole organisms alike.