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Mitochondrial Case Studies

Mitochondrial Case Studies PDF Author: Russell Saneto
Publisher: Academic Press
ISBN: 9780128008775
Category :
Languages : en
Pages : 336

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Book Description
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

Mitochondrial Case Studies

Mitochondrial Case Studies PDF Author: Russell Saneto
Publisher: Academic Press
ISBN: 9780128008775
Category :
Languages : en
Pages : 336

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Book Description
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

Mitochondrial Case Studies

Mitochondrial Case Studies PDF Author: Russell Saneto
Publisher: Academic Press
ISBN: 0128011491
Category : Science
Languages : en
Pages : 338

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Book Description
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

Mitochondrial DNA Control Region Sequences Used for Identification of Species in Two Forensic Science Case Studies

Mitochondrial DNA Control Region Sequences Used for Identification of Species in Two Forensic Science Case Studies PDF Author: Kevin Dee Rittenhouse
Publisher:
ISBN:
Category :
Languages : en
Pages : 86

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Book Description


Mitochondrial Medicine

Mitochondrial Medicine PDF Author: Pankaj Prasun
Publisher: Academic Press
ISBN: 0128170077
Category : Medical
Languages : en
Pages : 138

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Book Description
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

Pediatric Epilepsy Case Studies

Pediatric Epilepsy Case Studies PDF Author: Kevin Chapman
Publisher: CRC Press
ISBN: 1420083422
Category : Science
Languages : en
Pages : 296

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Book Description
The amount of information currently available on pediatric epilepsy, as with all burgeoning fields, can seem overwhelming. Pediatric Epilepsy Case Studies: From Infancy and Childhood through Adolescence reviews the recent flood of new information on the pathophysiology, genetics, and treatment of the various epilepsy syndromes and distills it into an easy-to-use guide. Edited by respected and well-known leaders in the field, the book provides brief, but thorough, descriptions of the different syndromes commonly encountered in clinical practice across the pediatric range. Grasping the complexity and nuances associated with various epileptic syndromes can be daunting. Therefore, the book begins with an introduction to the fundamentals of epilepsy. Subsequent sections include succinct case presentations and clinically relevant discussions of the more common epilepsy syndromes affecting each age group. The chapter authors describe why they chose each particular case, what they learned, and how it changed their practice. The extensive resource section provides an authoritative guide to relevant findings scattered in the literature. Research in the field of epilepsy will continue at a rapid pace, with the ultimate hope of curing many intractable epilepsy syndromes. Organized chronologically, from neonate through adolescence, this book is the culmination of a group effort involving leading physicians and researchers whose contributions constitute a concise and practical reference for health professionals in training.

Case Studies in Neuromuscular Disorders, An Issue of Neurologic Clinics

Case Studies in Neuromuscular Disorders, An Issue of Neurologic Clinics PDF Author: Aziz Shaibani
Publisher: Elsevier Health Sciences
ISBN: 0323697720
Category : Medical
Languages : en
Pages : 240

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Book Description
This issue of Neurologic Clinics, guest edited by Dr. Aziz Shaibani, is devoted to Case Studies in Neuromuscular Disorders. This issue is one of four selected each year by the series Consulting Editor, Dr. Randolph W. Evan. Articles in this issue include: Myotonia, Muscular Dystrophy, Spinal Muscular Atrophy, Advances in Clinical Genetics, FSHD New Diagnosis and Therapies, Congenital Myasthenic Syndrome, Diabetic Amyotrophy, ALS: Management Problems, Diagnostic and Therapeutic Challenges in Myasthenia Gravis, Scapular Winging, Small Fiber Neuropathy, Myopathies, Distal Myopathies, Inflammatory Myopathies, Muscle Cramps, Misdiagnosis of IBM, and Immune Mediated Neuropathies.

Mitochondrial Metabolism and Morphology in Mitochondrial Disease States

Mitochondrial Metabolism and Morphology in Mitochondrial Disease States PDF Author: Mariella Theresa Simon
Publisher:
ISBN: 9781369688184
Category :
Languages : en
Pages : 277

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Book Description
Mitochondria are the hub of cellular metabolism, respiration and energy production. They are sites of reactive oxidative species (ROS), heme and steroid generation. They buffer cellular calcium flux, regulate redox states, control cell cycle and death and are therefore at the nexus of human health and disease. Syndromes encountered in the mitochondrial disease clinic, associated with mutations in mitochondrial genes, are generally rare and require detailed clinical mitochondrial disease workups, including next generation sequencing technology. The discovery of new genes often presents itself with inconclusive findings, which need to be further pursued and delineated in the research setting. It is therefore of great importance to apply the "bedside to bench and back to bedside" principle in the field of mitochondrial medicine to advance diagnostic and treatment modalities. In this dissertation, I demonstrate bioenergetic findings in three novel mitochondrial disease genes, NARS2, TFAM and LonP1, in a collaborative effort. By doing so, I have helped to delineate the underlying cause of pathologies for families with mitochondrial disease. Presented are also two case studies of patients with mutations in POLG and GFM1, with unusual clinical findings, which may point to new, not yet described cellular processes associated with mitochondrial dysfunction. By correlating gene function with patient's disease, taking into consideration clinical parameters observed, I have also shown new metabolic findings in a primary fibroblast tissue culture system from patients with mutations in the mitochondrial matrix protease LonP1. The patients have mutations in a domain of the gene, which has never been associated with disease. Findings suggest that the patient phenotype depends on the location of the mutations in LonP1 and that clinical expression is domain specific. Findings also show increased susceptibility to stress, elicited by the use of antibiotic/antimycotic in the tissue culture system. In the future, I plan to build on the results from this study, to assess the effects of potential treatment modalities on mitochondrial function in fibroblast culture.

Case Studies in Immunology

Case Studies in Immunology PDF Author: Raif Geha
Publisher: Garland Science
ISBN: 1317390008
Category : Medical
Languages : en
Pages : 384

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Book Description
Case Studies in Immunology, Seventh Edition is intended for medical students and undergraduate and graduate students in immunology. It presents major topics of immunology through a selection of clinical cases that reinforce and extend the basic science. Each case history is preceded by essential scientific facts about the immunological mechanisms o

Case Studies in Genes and Disease

Case Studies in Genes and Disease PDF Author:
Publisher: ACP Press
ISBN: 193051350X
Category : Medical
Languages : en
Pages : 262

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Book Description
For clinicians who studied genetics before the age of the genome and have not kept up with recent developments, Bergeron (Harvard U.) provides background information to help them understand the new literature and evaluate the new drugs emerging from the field. First he covers the technology, then the socio-political aspects.

Mitochondrial Dysfunction Caused by Drugs and Environmental Toxicants

Mitochondrial Dysfunction Caused by Drugs and Environmental Toxicants PDF Author: Yvonne Will
Publisher: John Wiley & Sons
ISBN: 1119329736
Category : Science
Languages : en
Pages : 816

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Book Description
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