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Mitochondrial Case Studies

Mitochondrial Case Studies Book
Author : Russell Saneto
Publisher : Academic Press
Release : 2015-12-11
ISBN : 9780128008775
Language : En, Es, Fr & De

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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 Book
Author : Russell Saneto,Sumit Parikh,Bruce H Cohen
Publisher : Academic Press
Release : 2015-11-24
ISBN : 0128011491
Language : En, Es, Fr & De

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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 Medicine

Mitochondrial Medicine Book
Author : Pankaj Prasun
Publisher : Academic Press
Release : 2019-05-18
ISBN : 0128170077
Language : En, Es, Fr & De

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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

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 Book
Author : Kevin Dee Rittenhouse
Publisher : Unknown
Release : 1996
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Mitochondrial DNA Control Region Sequences Used for Identification of Species in Two Forensic Science Case Studies book written by Kevin Dee Rittenhouse, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Biochemistry and Experimental Biology

Biochemistry and Experimental Biology Book
Author : Anonim
Publisher : Unknown
Release : 1977
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Biochemistry and Experimental Biology book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Case Studies in Neuromuscular Disorders An Issue of Neurologic Clinics E Book

Case Studies in Neuromuscular Disorders  An Issue of Neurologic Clinics  E Book Book
Author : Aziz Shaibani
Publisher : Elsevier Health Sciences
Release : 2020-08-28
ISBN : 0323697720
Language : En, Es, Fr & De

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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.

Cardiac Biomarkers

Cardiac Biomarkers Book
Author : Alan S. Maisel,Allan S. Jaffe
Publisher : Springer
Release : 2016-10-24
ISBN : 3319429825
Language : En, Es, Fr & De

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Book Description :

This book covers ACS and Heart Failure, the chapters represent the most current, up to date and knowledgeable content on the topic available. It is written by the worlds most respected leaders in biomarkers, with a majority emphasis on what clinicians need to know. The Editors and their contributors have provided algorithms, annotated case discussions and caveats. They cover biomarkers to predict risk of heart disease, biomarkers of cardiorenal disease , and conclude with a section on new and emerging biomarkers. It be genuinely helpful and practical to those in the field, including not just people working in the field, but nurses, doctors, etc who practice medicine in the clinic, the emergency department and the hospital.​

Mitochondrial Metabolism and Morphology in Mitochondrial Disease States

Mitochondrial Metabolism and Morphology in Mitochondrial Disease States Book
Author : Mariella Theresa Simon
Publisher : Unknown
Release : 2016
ISBN : 9781369688184
Language : En, Es, Fr & De

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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.

Pediatric Epilepsy Case Studies

Pediatric Epilepsy Case Studies Book
Author : Kevin Chapman,Jong M. Rho
Publisher : CRC Press
Release : 2008-09-18
ISBN : 1420083422
Language : En, Es, Fr & De

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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 Pediatric Intensive Care

Case Studies in Pediatric Intensive Care Book
Author : Mark C. Rogers,Mark A. Helfaer
Publisher : Unknown
Release : 1993
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

This book has been compiled with two goals in mind. First, it is directed to physicians in training. The hope is to expose young doctors to the interesting breadth and complexity of the patients who present to the pediatric intensive care unit. This is directed at any level of training. Starting pediatric interns can be exposed to a far greater number of cases than they would encounter just by sequentially admitting their portion of the patients. Likewise, senior fellows will benefit from the experiences of a great number of PICUs around the world.

Clinical Bioenergetics

Clinical Bioenergetics Book
Author : Sergej M. Ostojic
Publisher : Academic Press
Release : 2020-11-12
ISBN : 0128227729
Language : En, Es, Fr & De

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Book Description :

Clinical Bioenergetics: From Pathophysiology to Clinical Translation provides recent developments surrounding the etiology and pathophysiology of inherited and acquired energy-delated disorders. Across 40 chapters, world leaders in bioenergetics and mitochondrial medicine discuss novel methodologies designed to identify deficiencies in cellular bioenergetics, as well as the safety and efficacy of emerging management strategies to address poor cellular bioenergetics. Topics discussed include the omics landscape of impaired mitochondrial bioenergetics, hormones, tissue bioenergetics and metabolism in humans. Disease-specific case studies, modes of analysis in clinical bioenergetics, and therapeutic opportunities for impaired bioenergetics, addressing both known treatment pathways and future directions for research, are discussed in-depth. Diseases and Disorders examined include brain injury, chronic fatigue syndrome, psychiatric disorders, pulmonary fibrosis, neurodegenerative disorders, heart failure, chronic kidney disease, obesity, and insulin resistance, among others. Provides a thorough discussion of foundational aspects of bioenergetics and disease, modes of analysis, and treatments for impaired bioenergetics Discusses the role of bioenergetics and treatment pathways in brain injury, chronic fatigue syndrome, psychiatric disorders, pulmonary fibrosis, neurodegenerative disorders, heart failure, chronic kidney disease, obesity, and insulin resistance, among other diseases and disorders Features chapter contributions from international leaders in translational bioenergetics research and clinical practice

International Journal of Fertility

International Journal of Fertility Book
Author : Anonim
Publisher : Unknown
Release : 1972
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Most issues include Current bibliography index of mammalian reproduction.

Case Studies in Genes and Disease

Case Studies in Genes and Disease Book
Author : Anonim
Publisher : ACP Press
Release : 2004
ISBN : 193051350X
Language : En, Es, Fr & De

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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.

Diagnosis and Management of Mitochondrial Disorders

Diagnosis and Management of Mitochondrial Disorders Book
Author : Michelangelo Mancuso,Thomas Klopstock
Publisher : Springer
Release : 2019-05-03
ISBN : 3030055175
Language : En, Es, Fr & De

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Book Description :

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.

Drug Induced Mitochondrial Dysfunction

Drug Induced Mitochondrial Dysfunction Book
Author : James A. Dykens,Yvonne Will
Publisher : John Wiley & Sons
Release : 2008-09-11
ISBN : 0470372524
Language : En, Es, Fr & De

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Book Description :

This is the definitive, one-stop resource on preclinical drug evaluation for potential mitochondrial toxicity, addressing the issue upfront in the drug development process. It discusses mitochondrial impairment to organs, skeletal muscle, and nervous systems and details methodologies used to assess mitochondria function. It covers both in vitro and in vivo methods for analysis and includes the latest models. This is the authoritative reference on drug-induced mitochondrial dysfunction for safety assessment professionals in the pharmaceutical industry and for pharmacologists and toxicologists in both drug and environmental health sciences.

Journal of Medical Genetics

Journal of Medical Genetics Book
Author : Anonim
Publisher : Unknown
Release : 1988
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Journal of Medical Genetics book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Achievements and Perspectives of Mitochondrial Research Biogenesis

Achievements and Perspectives of Mitochondrial Research  Biogenesis Book
Author : Ernesto Quagliariello
Publisher : Elsevier Science & Technology
Release : 1985
ISBN : 9780444807465
Language : En, Es, Fr & De

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Book Description :

Download Achievements and Perspectives of Mitochondrial Research Biogenesis book written by Ernesto Quagliariello, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Pathology in Clinical Practice 50 Case Studies

Pathology in Clinical Practice  50 Case Studies Book
Author : Barry AT Newell,Susan Dilly,Caroline Finlayson,Mitesh Gandhi,Sunil Lakhani
Publisher : CRC Press
Release : 2009-01-30
ISBN : 1444165321
Language : En, Es, Fr & De

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Book Description :

Once students have learned the principles behind basic pathology and the mechanisms of disease, they must then consolidate their knowledge by putting those principles into clinical practice. Providing a practical learning experience, this volume presents fifty structured clinical scenarios. Each case is based on a clinical situation that pulls together the key pathological, radiological, and clinical aspects of a condition. Questions and answers highlight diagnostic avenues and provide an effective way of testing assimilation of the material. Students can set their own level of challenge and build their clinical understanding by delving into a cluster of cases covering related topics, or instead emphasize one of the five main themes: symptoms, signs, investigations, treatment, and overall management. Ample illustrations supplement the text, which blends typical clinical case presentations with narrative-style and imaging-based cases.

Studies on Mitochondrial Adenosine Triphosphatase

Studies on Mitochondrial Adenosine Triphosphatase Book
Author : Christine Carlsson-Skwirut
Publisher : Unknown
Release : 1982
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Studies on Mitochondrial Adenosine Triphosphatase book written by Christine Carlsson-Skwirut, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.