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Mitochondrial Case Studies

Author: Russell Saneto
Publisher: Academic Press
ISBN: 0128011491
Size: 68.62 MB
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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

Mechanisms Linking Aging Diseases And Biological Age Estimation

Author: Sara C. Zapico
Publisher: CRC Press
ISBN: 1498709702
Size: 51.66 MB
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This book focuses on four of the hallmarks of aging: aspartic acid racemization, advanced glycation end products, telomere shortening and mitochondrial mutations; describing their role in aging and diseases; and their application to age-at-death estimation in forensic sciences in greater depth, displaying the interconnecting pathways among these processes. An additional chapter related to Epigenetics and its role in aging, diseases, and forensic age estimation is also included. This book is aimed at a broad audience: from students being introduced to aging, diseases, and forensic science research to scientists in biomedicine and forensics complementing their knowledge in their respective fields while also increasing their knowledge in other disciplines.

Clinical Cardiogenetics

Author: H.F. Baars
Publisher: Springer Science & Business Media
ISBN: 9781849964715
Size: 11.73 MB
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Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?

Evolution In Action

Author: Matthias Glaubrecht
Publisher: Springer Science & Business Media
ISBN: 9783642124259
Size: 80.95 MB
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Radiations, or Evolution in Action We have just celebrated the “Darwin Year” with the double anniversary of his 200th birthday and 150th year of his masterpiece, “On the Origin of Species by means of Natural Selection”. In this work, Darwin established the factual evidence of biological evolution, that species change over time, and that new organisms arise by the splitting of ancestral forms into two or more descendant species. However, above all, Darwin provided the mechanisms by arguing convincingly that it is by natural selection – as well as by sexual selection (as he later added) – that organisms adapt to their environment. The many discoveries since then have essentially con?rmed and strengthened Darwin’s central theses, with latest evidence, for example, from molecular genetics, revealing the evolutionary relationships of all life forms through one shared history of descent from a common ancestor. We have also come a long way to progressively understand more on how new species actually originate, i. e. on speciation which remained Darwin’s “mystery of m- teries”, as noted in one of his earliest transmutation notebooks. Since speciation is the underlying mechanism for radiations, it is the ultimate causation for the biological diversity of life that surrounds us.

Pg Textbook Of Pediatrics

Author: Piyush Gupta
Publisher: JP Medical Ltd
ISBN: 9351527255
Size: 75.81 MB
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Postgraduate Textbook of Pediatrics is a comprehensive guide to paediatrics. The textbook is comprised of three volumes, split into ten parts with over 600 chapters, and contributions from over 50 section editors and 725 authors, covering all paediatric disorders, descriptions of diseases and their management. Includes nearly 1500 images and illustrations in full colour, incorporating information on modern imaging techniques for neurological disorders in children. This is an ideal resource for postgraduate students to gain a firm grounding in, and retain and improve their knowledge of all areas of paediatric medicine.

Mechanisms In Bioenergetics

Author: Efraim Racker
Publisher: Academic Press
ISBN: 1483268934
Size: 23.12 MB
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Advanced Biochemistry: Mechanisms in Bioenergetics provides information pertinent to the fundamental aspects of the mechanisms in bioenergetics. This book covers a variety of topics, including the enzymatic mechanism of ATP formation and the regulatory mechanisms that control its metabolic utilization. Organized into three parts encompassing 18 lectures, this book begins with an overview of the process of converting nutrients into forms of useful energy, which is the essence of energy metabolism. This text then explores the properties that have a specific bearing on the problem of oxidative phosphorylation. Other lectures consider the phosphoroclastic reaction with pyruvate, which plays a curious and apparently specific role in nitrogen fixation. This book discusses as well the operation of control mechanisms of energy metabolism in intact cells. The final lecture analyzes the rate-limiting steps in carbohydrate metabolism of various cells and some of the metabolic factors that govern them. This book is a valuable resource for graduate students.

Drug Induced Liver Disease

Author: Neil Kaplowitz
Publisher: Academic Press
ISBN: 0123878187
Size: 22.82 MB
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This field has shown tremendous growth in recent years, primarily due to the recognition that drug-induced liver disease is the most common cause of liver failure and one of the major contributors to the withdrawal of drugs developed by the pharmaceutical industry. Drug-Induced Liver Disease, 3rd edition is a comprehensive reference that covers mechanisms of injury, diagnosis and management, major hepatotoxins, regulatory perspectives and much more. Written by highly respected authorities, this new edition is an updated and definitive reference for clinicians and scientists in academia, the pharmaceutical industry and government settings. This book contains 4 new chapters on key topics in the area and provides a current and extensive review of the latest developments concerning the toxicology, pharmacology, genetics and immunology of drug-induced liver disease. A multi-authored reference work written by leading clinical, academic and industry experts in drug-induced liver disease Contains four new chapters on key areas in the field, including one on worldwide drug-induced liver injury networks Each chapter has been updated to address the latest research and findings in the field and 16 new chapter authors have been added to this new edition Includes coverage of the basic, clinical and practical aspects of drug-induced liver disease to provide the single most comprehensive reference on the subject

Antimicrobial Peptides

Author: David A. Phoenix
Publisher: John Wiley & Sons
ISBN: 3527652876
Size: 15.40 MB
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In this text, the small team of expert authors presents the field in a comprehensive and accessible manner that is well suited for students and junior researchers. The result is a highly readable and systematically structured introduction to antimicrobial peptides, their structure, biological function and mode of action. The authors point the way towards a rational design of this potentially highly effective new class of clinical antibiotics on the brink of industrial application. They do this by discussing their design principles, target membranes and structure-activity relationships. The final part of the book describes recent successes in the application of peptides as anticancer agents.

Diagnosis And Treatment Of Chronic Fatigue Syndrome And Myalgic Encephalitis

Author: Sarah Myhill
Publisher: Chelsea Green Publishing
ISBN: 160358787X
Size: 39.98 MB
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Mitochondria are the powerhouses of our cells, essential for the production and management of energy at the cell level. Dr. Sarah Myhill has spent years studying the relationship between mitochondrial malfunction and one of the most common problems that leads people to the doctor's office: fatigue. In Diagnosis and Treatment of Chronic Fatigue Syndrome and Myalgic Encephalitis, Dr. Myhill examines this essential role of our mitochondria in energy production and why it is key to understanding and overcoming Chronic Fatigue Syndrome (CFS) and the inflammation that often accompanies it: Myalgic Encephalitis (ME). She explains the importance of healthy mitochondria, how we can assess how well they are functioning, what we can do to keep them healthy, and how to restore them to health if problems arise. Since publication of the first edition in 2014, new research and new clinical findings have shed further light on a condition that is debilitating to those who suffer from it, but "all in the head" to many doctors. The second edition of this groundbreaking book includes new insights and chapters on why CFS/ME is the most poorly treated condition in Western medicine, the role of the gut, allergy and autoimmunity, Lyme disease and other coinfections, reprogramming the immune system, reprogramming the brain, and the roadmap to recovery.

Spinal Muscular Atrophy

Author: Charlotte J Sumner
Publisher: Academic Press
ISBN: 0128036869
Size: 27.69 MB
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Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle atrophy, and is the leading genetic cause of infant mortality. Since the identification of the gene responsible for SMA in 1995, there have been important advances in the basic understanding of disease mechanisms, and in therapeutic development. This book provides a comprehensive accounting of recent advances in basic and clinical research that covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, and biomarkers, as well as current therapeutic development. This title is ideal for graduate students/postdocs and principal investigators who are already in the SMA field and need to keep updated on recent findings and approaches, and for those who are new to, or would like to join, the field. Likewise, users will find an excellent source of reading for biotech/pharma scientists, clinical researchers, and practitioners, regulators, and patients and their advocacy organizations. Furthermore, this book is a handy reference for researchers and clinicians who may want to apply the research strategies and therapeutic approaches in SMA to other rare diseases. Provides comprehensive, up-to-date reviews by leading investigators on diverse topics of SMA, including clinical features and patient care, SMN genetics and protein functions, animal models, disease pathology and mechanisms, biomarkers, current therapeutic development, and the role of non-profit organizations in therapeutic development Written to bridge multiple disciplines and promote better communications among basic scientists, clinical researchers, and health care providers on the latest developments in SMA Includes outstanding questions and perspectives for future investigations and key references for additional detailed study