Download or read book Mitochondrial Case Studies written by Russell Saneto and published by Academic Press. This book was released on 2015-11-24 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diverse and influenced by genetic, environmental, and social-economic factors, this publication will help students, physicians, scientists, health care students, and families recognize and accurately diagnose mitochondrial disease and learn about potential treatments. - Reviews case studies as a helpful teaching tool to increase awareness and improve diagnosis - Provides information on underlying mechanisms of mitochondrial disease - Includes basic mitochondrial dysfunction research through patient case studies to best illustrate the entire disease process

Download or read book Mitochondrial Dysfunction written by Lawrence H. Lash and published by Elsevier. This book was released on 2013-10-22 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Mitochondrial Replacement Techniques written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2016-04-17 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial replacement techniques (MRTs) are designed to prevent the transmission of mitochondrial DNA (mtDNA) diseases from mother to child. While MRTs, if effective, could satisfy a desire of women seeking to have a genetically related child without the risk of passing on mtDNA disease, the technique raises significant ethical and social issues. It would create offspring who have genetic material from two women, something never sanctioned in humans, and would create mitochondrial changes that could be heritable (in female offspring), and therefore passed on in perpetuity. The manipulation would be performed on eggs or embryos, would affect every cell of the resulting individual, and once carried out this genetic manipulation is not reversible. Mitochondrial Replacement Techniques considers the implications of manipulating mitochondrial content both in children born to women as a result of participating in these studies and in descendants of any female offspring. This study examines the ethical and social issues related to MRTs, outlines principles that would provide a framework and foundation for oversight of MRTs, and develops recommendations to inform the Food and Drug Administration's consideration of investigational new drug applications.

Download or read book Mitochondrial Disorders in Neurology written by Anthony Henry Vernon Schapira and published by Butterworth-Heinemann. This book was released on 1994 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial Disorders in Neurology provides an overview of mitochondrial diseases. This book discusses the effects of mitochondrial dysfunction based on the relevant biochemistry and molecular genetics. The abnormal muscle and mitochondrial morphology in a variety of clinical presentations from isolated ophthalmoplegia to severe encephalopathy are also elaborated. This text likewise deliberates Leber's hereditary optic neuropathy, neurodegenerative disorders, and respiratory chain defects. Other topics covered include mitochondrial DNA and the genetics of mitochondrial disease; cytochrome ox ...

Download or read book Mitochondrial Medicine written by Saskia Koene and published by . This book was released on 2011 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Ethics Conflict and Medical Treatment for Children E Book written by Dominic Wilkinson and published by Elsevier Health Sciences. This book was released on 2018-08-05 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: What should happen when doctors and parents disagree about what would be best for a child? When should courts become involved? Should life support be stopped against parents' wishes? The case of Charlie Gard, reached global attention in 2017. It led to widespread debate about the ethics of disagreements between doctors and parents, about the place of the law in such disputes, and about the variation in approach between different parts of the world. In this book, medical ethicists Dominic Wilkinson and Julian Savulescu critically examine the ethical questions at the heart of disputes about medical treatment for children. They use the Gard case as a springboard to a wider discussion about the rights of parents, the harms of treatment, and the vital issue of limited resources. They discuss other prominent UK and international cases of disagreement and conflict. From opposite sides of the debate Wilkinson and Savulescu provocatively outline the strongest arguments in favour of and against treatment. They analyse some of the distinctive and challenging features of treatment disputes in the 21st century and argue that disagreement about controversial ethical questions is both inevitable and desirable. They outline a series of lessons from the Gard case and propose a radical new 'dissensus' framework for future cases of disagreement. - This new book critically examines the core ethical questions at the heart of disputes about medical treatment for children. - The contents review prominent cases of disagreement from the UK and internationally and analyse some of the distinctive and challenging features around treatment disputes in the 21st century. - The book proposes a radical new framework for future cases of disagreement around the care of gravely ill people.

Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.

Download or read book Clinical Mitochondrial Medicine written by Patrick F. Chinnery and published by Cambridge University Press. This book was released on 2018-05-17 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt: This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.

Download or read book Mitochondrial Dysfunction Caused by Drugs and Environmental Toxicants written by Yvonne Will and published by John Wiley & Sons. This book was released on 2018-03-23 with total page 816 pages. Available in PDF, EPUB and Kindle. Book excerpt: Developed as a one-stop reference source for drug safety and toxicology professionals, this book explains why mitochondrial failure is a crucial step in drug toxicity and how it can be avoided. • Covers both basic science and applied technology / methods • Allows readers to understand the basis of mitochondrial function, the preclinical assessments used, and what they reveal about drug effects • Contains both in vitro and in vivo methods for analysis, including practical screening approaches for drug discovery and development • Adds coverage about mitochondrial toxicity underlying organ injury, clinical reports on drug classes, and discussion of environmental toxicants affecting mitochondria

Download or read book Uncommon Causes of Stroke written by Julien Bogousslavsky and published by Cambridge University Press. This book was released on 2001-05-24 with total page 418 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential resource for diagnosis and treatment of stroke patients outside the usual clinical categories.

Download or read book Mitochondria in Health and Diseases written by Sabzali Javadov and published by . This book was released on 2020-09-04 with total page 434 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondria are subcellular organelles evolved by the endosymbiosis of bacteria with eukaryotic cells. They are the main source of ATP in the cell and engaged in other aspects of cell metabolism and cell function, including the regulation of ion homeostasis, cell growth, redox status, and cell signaling. Due to their central role in cell life and death, mitochondria are also involved in the pathogenesis and progression of human diseases/conditions, including neurodegenerative and cardiovascular disorders, cancer, diabetes, inflammation, and aging. However, despite the increasing number of studies, precise mechanisms whereby mitochondria are involved in the regulation of basic physiological functions, as well as their role in the cell under pathophysiological conditions, remain unknown. A lack of in-depth knowledge of the regulatory mechanisms of mitochondrial metabolism and function, as well as interplay between the factors that transform the organelle from its role in pro-survival to pro-death, have hindered the development of new mitochondria-targeted pharmacological and conditional approaches for the treatment of human diseases. This book highlights the latest achievements in elucidating the role of mitochondria under physiological conditions, in various cell/animal models of human diseases, and in patients.

Download or read book Oxford Textbook of Clinical Nephrology written by Neil N. Turner and published by Oxford University Press. This book was released on 2015-10-29 with total page 3045 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fourth edition of the Oxford Textbook of Clinical Nephrology builds on the success and international reputation of the publication as an important resource for the practising clinician in the field. It provides practical, scholarly, and evidence-based coverage of the full spectrum of clinical nephrology, written by a global faculty of experts. The most relevant and important reference to clinical nephrology, this is an authoritative and comprehensive textbook combining the clinical aspects of renal disease essential to daily clinical practice with extensive information about the underlying basic science and current evidence available. Each section of the textbook has been critically and comprehensively edited under the auspices of a leading expert in the field. This new edition has been significantly expanded and reapportioned to reflect developments and new approaches to topics, and includes treatment algorithms to aid and enhance patient care where possible. The fourth edition offers increased focus on the medical aspects of transplantation, HIV-associated renal disease, and infection and renal disease, alongside entirely new sections on genetic topics and clinical and physiological aspects of fluid/electrolyte and tubular disorders. The emphasis throughout is on marrying advances in scientific research with clinical management. Richly illustrated throughout in full colour, this is a truly modern and attractive edition which reinforces the Oxford Textbook of Clinical Nephrology's position as an indispensable reference work of consistent quality and reliability. Enriched and refined by careful revision, this new edition continues the tradition of excellence. This print edition of The Oxford Textbook of Clinical Nephrology comes with a year's access to the online version on Oxford Medicine Online. By activating your unique access code, you can read and annotate the full text online, follow links from the references to primary research materials, and view, enlarge and download all the figures and tables. Oxford Medicine Online is mobile optimized for access when and where you need it.

Download or read book Autism Spectrum Disorders written by Andreas M. Grabrucker and published by . This book was released on 2021 with total page 117 pages. Available in PDF, EPUB and Kindle. Book excerpt: Autism spectrum disorders are developmental disorders. Individuals with autism spectrum disorders develop differently. These differences are usually present in social interaction, communication, and sensory processing, and become visible through a wide variety of behavioral responses that differ from individuals without autism spectrum disorders. Despite significant research efforts, the exact causes of autism spectrum disorders remain poorly understood; however, researchers have gained extensive insights into possible pathomechanisms, even at the molecular level of cells. Many diagnostic criteria have been developed, adapted, and improved. The eight chapters in this book highlight the current state-of-the-art in many areas of autism spectrum disorders. Chapter 1 provides an overview of the epidemiology of autism spectrum disorders and the current knowledge of the underlying pathogenic mechanisms. Chapter 2 summarizes the diagnostic criteria and procedures and highlights present and upcoming therapeutic strategies. Chapter 3 reviews the adverse events and trauma in people with autism spectrum disorders. Chapters 4 and 5 focus on atypical sensory processing, and Chapter 6 discusses the genetic overlap of autism spectrum disorders with other neuropsychiatric disorders such as attention deficit hyperactivity disorder (ADHD), depression, and schizophrenia. Chapter 7 focuses on the contribution of abnormalities in mitochondria, and chapter 8 discusses gut-brain interactions and a potential role for microbiota in autism spectrum disorders. This book is aimed primarily at clinicians and scientists, but many areas will also be of interest to the layperson.

Download or read book Mitochondria and Cancer written by Keshav Singh and published by Springer Science & Business Media. This book was released on 2009-04-05 with total page 294 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nearly a century of scientific research has revealed that mitochondrial dysfunction is one of the most common and consistent phenotypes of cancer cells. A number of notable differences in the mitochondria of normal and cancer cells have been described. These include differences in mitochondrial metabolic activity, molecular composition of mitochondria and mtDNA sequence, as well as in alteration of nuclear genes encoding mitochondrial proteins. This book, Mitochondria and Cancer, edited by Keshav K. Singh and Leslie C. Costello, presents thorough analyses of mitochondrial dysfunction as one of the hallmarks of cancer, discusses the clinical implications of mitochondrial defects in cancer, and as unique cellular targets for novel and selective anti-cancer therapy.

Download or read book Case Studies in Genes and Disease written by Bryan Bergeron and published by ACP Press. This book was released on 2004 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: Progress in the field of genetics is moving faster and demonstrating accomplishments unlike ever before. Genes marking for specific diseases and methods in gene therapy are evolving rapidly and being incorporated into daily patient care. Ethical issues are under constant debate by politicians, journalists, and laymen. All health care providers need to stay informed on the research, the applicability to patient management, and the moral issues involved. Case Studies in Genes and Disease tackles all these issues for those who need it most: busy clinicians who daily see patients needing to know how advances in genetic research and therapy affect their health. Written for practitioners who are not geneticists, it does not presume an expert's familiarity with the subject. From fundamentals to specific diseases to "the dark side" of genetics, Case Studies in Genes and Disease will educate, intrigue, and astound you.

Download or read book Neuromuscular Case Studies E Book written by Tulio E. Bertorini and published by Elsevier Health Sciences. This book was released on 2023-10-27 with total page 656 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ideal for neurologists and other health care professionals who treat patients with neuromuscular diseases, Neuromuscular Case Studies, 2nd Edition, presents more than 100 cases of both common and rare neuromuscular disorders. Dr. Tulio E. Bertorini provides the latest tools and strategies for diagnosis and management that minimize disability and maximize quality of life for your patients, including up-to-date coverage of numerous recent advances in the field. Using a multidisciplinary approach, this practical text contains two parts: the first includes basic aspects of anatomy, physiology, diagnostic tests, and therapeutic strategies; the second describes specific cases and their diagnosis and management. - Presents a multidisciplinary approach to the management and therapeutic treatment of the full range of neuromuscular disorders and resulting complications. - Covers the latest advances in the field, including genetic causes of hereditary diseases, new autoimmune diseases, and promising new therapies such as antisense oligonucleotides, gene therapies, and immunotherapy. - Includes the wide range of disorders that fall under each disease classification (e.g., the Motor Neuron Diseases chapter includes all forms of spinal atrophy, ALS, neuropathies and myopathies, as well as disorders of neuromuscular transmission). In turn, each disease section includes diagnosis and evaluation, treatment, outcome, and suggested readings. - Uses a reader-friendly format that takes you step by step through the diagnosis and treatment of neuromuscular disorders, from the basic anatomy and physiology of the nerve and muscle through to clinical evaluation, diagnostic testing, and therapy. - Reviews the etiologies, pathogenesis, differential diagnosis, and management of each disorder, helping you not only recognize its presentation, but also determine the best treatment plan. - Arranges case studies and indexes both by complaint and by diagnosis. - Features full-color clinical images and diagrams — along with numerous diagnosis tools, tables and treatment algorithms throughout — that make complex concepts easier to understand and apply. - Shares the knowledge and experience of an expert in clinical neuromuscular care. - Any additional digital ancillary content may publish up to 6 weeks following the publication date.

Download or read book Mitochondrial Pathways and Respiratory Control written by Erich Gnaiger and published by . This book was released on 2012 with total page 64 pages. Available in PDF, EPUB and Kindle. Book excerpt: