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Author: Cristy Balcells
Publisher:
ISBN: 9781606130148
Category : Mitochondrial pathology
Languages : en
Pages : 0
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Book Description
Living Well with Mitochondrial Disease helps make sense of mitochondrial disease (Mito), an overwhelming and complex group of diagnoses that has grown exponentially in recent years. The most common metabolic disorder, thought to be more common than cystic fibrosis and broader-reaching than most genetic diseases, Mito can affect babies, children, and teens from birth or at any point during their development. Previously healthy adults, as well as adults with a history of unexplained fatigue, are increasingly receiving a Mito diagnosis. Some children with autism spectrum disorders who have medical issues such as digestive difficulties and fatigue are also being identified as having a mitochondrial disorder. This guide is the first book about Mito written for patients and thier families. It takes readers from understanding how the mitochondria work (they are the powerhouse of the cell, providing energy for the entire body), how people with mitochondrial defects are diagnosed and treated, to how to live well when you, your child, or someone you love is struggling with disabling symptoms. Topics include: the journey to diagnosis; the biochemistry of Mito; practical advice for the specific needs of children and adults; understanding and managing symptoms; where to find specialists and support; treatment approaches; and autism and Mito. Writing from the perspective of both a parent and nurse, the author shows adult patients, parents, family members, and caregivers how to achieve the best quality of life possible. Readers will feel empowered as they come to understand the causes of Mito, learn to manage the symptoms, avoid emergencies and make appropriate lifestyle choices.
Author: Cristy Balcells
Publisher:
ISBN: 9781606130148
Category : Mitochondrial pathology
Languages : en
Pages : 0
Get Book Here
Book Description
Living Well with Mitochondrial Disease helps make sense of mitochondrial disease (Mito), an overwhelming and complex group of diagnoses that has grown exponentially in recent years. The most common metabolic disorder, thought to be more common than cystic fibrosis and broader-reaching than most genetic diseases, Mito can affect babies, children, and teens from birth or at any point during their development. Previously healthy adults, as well as adults with a history of unexplained fatigue, are increasingly receiving a Mito diagnosis. Some children with autism spectrum disorders who have medical issues such as digestive difficulties and fatigue are also being identified as having a mitochondrial disorder. This guide is the first book about Mito written for patients and thier families. It takes readers from understanding how the mitochondria work (they are the powerhouse of the cell, providing energy for the entire body), how people with mitochondrial defects are diagnosed and treated, to how to live well when you, your child, or someone you love is struggling with disabling symptoms. Topics include: the journey to diagnosis; the biochemistry of Mito; practical advice for the specific needs of children and adults; understanding and managing symptoms; where to find specialists and support; treatment approaches; and autism and Mito. Writing from the perspective of both a parent and nurse, the author shows adult patients, parents, family members, and caregivers how to achieve the best quality of life possible. Readers will feel empowered as they come to understand the causes of Mito, learn to manage the symptoms, avoid emergencies and make appropriate lifestyle choices.
Author: Marni J. Falk
Publisher: Academic Press
ISBN: 0128200294
Category : Science
Languages : en
Pages : 548
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Book Description
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. 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 256 mitochondrial disease genes 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.
Author: Lawrence H. Lash
Publisher: Elsevier
ISBN: 1483218619
Category : Science
Languages : en
Pages : 527
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Book Description
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.
Author: Lee Know
Publisher: Chelsea Green Publishing
ISBN: 1603587675
Category : Health & Fitness
Languages : en
Pages : 274
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Book Description
With information for patients and practitioners on optimizing mitochondrial function for greater health and longevity Why do we age? Why does cancer develop? What's the connection between heart failure and Alzheimer's disease, or infertility and hearing loss? Can we extend lifespan, and if so, how? What is the Exercise Paradox? Why do antioxidant supplements sometimes do more harm than good? Many will be amazed to learn that all these questions, and many more, can be answered by a single point of discussion: mitochondria and bioenergetics. In Mitochondria and the Future of Medicine, Naturopathic Doctor Lee Know tells the epic story of mitochondria, the widely misunderstood and often-overlooked powerhouses of our cells. The legendary saga began over two billion years ago, when one bacterium entered another without being digested, which would evolve to create the first mitochondrion. Since then, for life to exist beyond single-celled bacteria, it's the mitochondria that have been responsible for this life-giving energy. By understanding how our mitochondria work, in fact, it is possible to add years to our lives, and life to our years. Current research, however, has revealed a dark side: many seemingly disconnected degenerative diseases have tangled roots in dysfunctional mitochondria. However, modern research has also endowed us with the knowledge on how to optimize its function, which is of critical importance to our health and longevity. Lee Know offers cutting-edge information on supplementation and lifestyle changes for mitochondrial optimization, such as CoQ10, D-Ribose, cannabinoids, and ketogenic dietary therapy, and how to implement their use successfully. Mitochondria and the Future of Medicine is an invaluable resource for practitioners interested in mitochondrial medicine and the true roots of chronic illness and disease, as well as anyone interested in optimizing their health.
Author: Cara Koscinski
Publisher: Createspace Independent Publishing Platform
ISBN: 9781515229841
Category :
Languages : en
Pages : 44
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Book Description
This is the perfect book for your child! It has colorful and fun illustrations. Mitochondrial disease affects people of all ages. Often, children benefit from books which explain symptoms and feelings in clear wording and bright photos. 'My Mighty Mito' has space for your child to personalize the book in the front as well as room for your child to write his/her own feelings and symptoms to help them to know that other children go through similar experiences and that they are not alone. 'Mighty Mito' is what Joshua Koscinski has called his mitochondria since he was a young child. Joshua is a thirteen year old who lives daily with the difficult symptoms and effects of mitochondrial disease. His desire is to help other children to know there are more kids like them out there and to not feel afraid. Often children with special needs benefit from 'social stories' or stories that help them to understand what is happening to them. For Joshua, writing is a way to let other children know that they are amazing! Cristy Balcells, founder of MitoAction.org and author of Living Well with Mitochondrial Disease wrote the foreward for our book. We hope you love reading it as much as we loved writing it. Joshua lives with mitochondrial disease, autism, Ehlers-Danlos, Sensory Processing Disorder, speech and motor delays, and eosinophilic esophagitis. When he is unable to walk, Joshua uses his granny smith apple wheelchair. He is home schooled since mitochondrial disease severely limits his energy level. Joshua is fed via a GJ tube (gastrojejunostomy tube) since his stomach doesn't function effectively. He is hyper-sensitive to heat and humidity, which is common in those with mitochondrial disease. Cara Koscinski, MOT, OTR/L (known as The Pocket Occupational Therapist) is Joshua's mother. She has authored four books and travels throughout the US to help educate therapists, parents, and teachers about working with children who have special needs. Visit her website at www.PocketOT.com for more information. Joshua has been a guest on the Anderson Cooper daytime talk show, on the cover of AutismAsperger's Digest, and AutismFile magazines. He is an advocate for other children who have mitochondrial disease.
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309388708
Category : Medical
Languages : en
Pages : 201
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Book Description
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.
Author: Saskia Koene
Publisher:
ISBN: 9789081773706
Category :
Languages : en
Pages : 135
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Book Description
Author: Patrick F. Chinnery
Publisher: Cambridge University Press
ISBN: 0521132983
Category : Medical
Languages : en
Pages : 229
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Book Description
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Author: Volkmar Weissig
Publisher: Humana
ISBN: 9781071612699
Category : Medical
Languages : en
Pages : 468
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Book Description
This second edition offers 88 chapters divided among three volumes providing the most comprehensive source of know-how in the wide-ranging field of Mitochondrial Medicine. Volume III guides readers through chapters on intercellular mitochondrial transfer, Cytoplasmic transfer methods, Ndufs4 knockout mouse, in vivo assessment of mitochondrial oxygen consumption, mitochondrial network analysis by imaging, mitochondrial respiration in platelets, Heterologous Inferential Analysis (HIA), bioenergetic profiling, integrative methods for studying cardiac energetics, and isolation and deep sequencing of mitochondrial DNA.Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, application details for both the expert and non-expert reader, and tips on troubleshooting and avoiding known pitfalls. Authoritative and accessible, Mitochondrial Medicine, Second Edition, Volume 3: Manipulating Mitochondria and Disease- Specific Approaches aims to be a comprehensive source of know-how in the wide-ranging field of Mitochondrial Medicine.
Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
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Book Description
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
