Clinical Mitochondrial Medicine

Clinical Mitochondrial Medicine PDF Author: Patrick F. Chinnery
Publisher: Cambridge University Press
ISBN: 0521132983
Category : Medical
Languages : en
Pages : 229

Get Book Here

Book Description
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.

Clinical Mitochondrial Medicine

Clinical Mitochondrial Medicine PDF Author: Patrick F. Chinnery
Publisher: Cambridge University Press
ISBN: 0521132983
Category : Medical
Languages : en
Pages : 229

Get Book Here

Book Description
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.

Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium PDF Author: Marni J. Falk
Publisher: Academic Press
ISBN: 0128200294
Category : Science
Languages : en
Pages : 548

Get Book Here

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.

Mitochondrial Replacement Techniques

Mitochondrial Replacement Techniques PDF Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309388708
Category : Medical
Languages : en
Pages : 201

Get Book Here

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.

Mitochondrial Case Studies

Mitochondrial Case Studies PDF Author: Russell Saneto
Publisher: Academic Press
ISBN: 0128011491
Category : Science
Languages : en
Pages : 340

Get Book Here

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 PDF Author: Saskia Koene
Publisher:
ISBN: 9789081773706
Category :
Languages : en
Pages : 135

Get Book Here

Book Description


Mitochondrial Dysfunction

Mitochondrial Dysfunction PDF Author: Lawrence H. Lash
Publisher: Elsevier
ISBN: 1483218619
Category : Science
Languages : en
Pages : 527

Get Book Here

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.

Mitochondrial Disorders Caused by Nuclear Genes

Mitochondrial Disorders Caused by Nuclear Genes PDF Author: Lee-Jun C. Wong
Publisher: Springer Science & Business Media
ISBN: 1461437229
Category : Medical
Languages : en
Pages : 364

Get Book Here

Book Description
Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell, every tissue, mitochondrial disorder usually affects multiple organs.

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: 1119329744
Category : Science
Languages : en
Pages : 816

Get Book Here

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

Mitochondrial Disorders in Neurology

Mitochondrial Disorders in Neurology PDF Author: Anthony Henry Vernon Schapira
Publisher: Butterworth-Heinemann
ISBN:
Category : Medical
Languages : en
Pages : 272

Get Book Here

Book Description
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 ...

Pediatric Palliative Care

Pediatric Palliative Care PDF Author: Betty Ferrell
Publisher:
ISBN: 0190244186
Category : Family & Relationships
Languages : en
Pages : 161

Get Book Here

Book Description
Pediatric palliative care is a field of significant growth as health care systems recognize the benefits of palliative care in areas such as neonatal intensive care, pediatric ICU, and chronic pediatric illnesses. Pediatric Palliative Care, the fourth volume in the HPNA Palliative Nursing Manuals series, highlights key issues related to the field. Chapters address pediatric hospice, symptom management, pediatric pain, the neonatal intensive care unit, transitioning goals of care between the emergency department and intensive care unit, and grief and bereavement in pediatric palliative care. The content of the concise, clinically focused volumes in the HPNA Palliative Nursing Manuals series is one resource for nurses preparing for specialty certification exams and provides a quick-reference in daily practice. Plentiful tables and patient teaching points make these volumes useful resources for nurses.