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.

This volume provides an overview of the biochemical basis of metabolic diseases and molecular basis of chemical pathologies. Metabolic disorders occur when metabolic processes in the body are disrupted. They contribute a significant burden to human health globally. They can be congenital or acquired, for example, diabetes mellitus, obesity, metabolic syndrome, osteoporosis, osteopenia, mild-moderate hypovitaminosis D, erectile dysfunction, dyslipidemia, and thyroiditis. Metabolic disorders have gained significant importance due to the exponential increase in obesity worldwide. Early diagnosis of metabolic disorders is important in order to employ lifestyle and risk factor modification. Features: An overview of the biochemical basis of metabolic diseases and molecular basis of chemical pathologies Describes recent trends in diagnosis of metabolic disorders Discusses management and treatment of metabolic diseases Allows quick identification and retrieval of material by researchers learning the efficacy, associated dosage and toxicity of each of the classes of compounds Suitable globally for graduate and postgraduate students studying metabolic diseases

Welcome to the 21st Edition of Nelson Textbook of Pediatrics – the reference of choice among pediatricians, pediatric residents, and others involved in the care of young patients. This fully revised edition continues to provide the breadth and depth of knowledge you expect from Nelson, while also keeping you up to date with new advances in the science and art of pediatric practice. Authoritative and reader-friendly, it delivers the information you need in a concise, easy-to-use format for everyday reference and study. From rapidly changing diagnostic and treatment protocols to new technologies to the wide range of biologic, psychologic, and social problems faced by children today, this comprehensive reference keeps you on the cutting edge of the very best in pediatric care. - Includes more than 70 new chapters, including Postural Orthostatic Tachycardia Syndrome (POTS), Rare and Undiagnosed Diseases, Approach to Mitochondrial Disorders, Electronic Nicotine Delivery Systems, Zika, update on Ebola, Epigenetics, Autoimmune Encephalitis, Global Health, Racism, Media Violence, Strategies for Health Behavior Change, Positive Parenting, and many more. - Features hundreds of new figures and tables throughout for visual clarity and quick reference. - Offers new and expanded information on CRISPR gene editing; LGBT health care; gun violence; vaccinations; immune treatment with CAR-T cells; new technology in imaging and genomics; new protocols in cancer, genetics, immunology, and pulmonary medicine; and much more. - Provides fresh perspectives from four new associate editors: Nathan J. Blum of The Children's Hospital of Philadelphia; Karen Wilson of Mt. Sinai School of Medicine in New York; Samir S. Shah of Cincinnati Children's Hospital Medical Center; and Robert C. Tasker of Boston Children's Hospital. - Remains your indispensable source for definitive, evidence-based answers on every aspect of pediatric care.

This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. - Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management - Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study - Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management - Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Peeking at Mitochondrial disease: History, Causes, Mechanisms, Diagnosis, Management etc. A Concise Review. Mitochondrial diseases are a heterogeneous group of disorders that can affect multiple organs with varying severity. It is a challenging area of genetics because two distinct genomes can contribute to disease pathogenesis. It is also challenging clinically because of the myriad of different symptoms and, until recently, a lack of a genetic diagnosis in many patients. The last five years has brought remarkable progress in this area. The unique character of mitochondrial genetics means family history patterns of inheritance may be both maternal and autosomal, making genetic counselling challenging. Tissue specificity and mitochondrial heteroplasmy may result in a spectrum of phenotypes even within a single family with the same molecular defect. An attempt has been made in this Booklet to describe the Origin, History, Causes, Mechanisms, Diagnosis, Management etc. along with plenty of relevant ILLUSTRATIONS for better understanding of enthusiastic medicos! …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)

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. MSeqDR provides tens of thousands of users with interactive access to mitochondrial disease feature descriptions in a defined human phenotype ontology, mitochondrial proteome-based gene and variant curation, and a suite of easily accessible tools to facilitate analysis of complex genomic datasets in nuclear and mitochondrial genomes as well as accurate interpretation of mitochondrial disease genes, variants, and diseases. 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 mitochondrial disease 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. Covering 256 mitochondrial disease genes that have been expert-curated to assure they cause human diseases and have known mitochondrial localization or impact mitochondrial function, the Mitochondrial Disease Genes Compendium is directed at clinicians and researchers, facilitating bedside access to high-level, curated knowledge on mitochondrial disease genetics that rapidly enables patient diagnosis, counseling, management, treatment, and research. Provides a readily intelligible, all-in-one reference of known mitochondrial disease genes and their associated conditions Features live links to Mitochondrial Disease Sequence Data Resource (MSeqDR) pages with regularly updated genetic variant data and bioinformatics tools Covers the inheritance patterns, age spectrum affected, major clinical features, therapeutics, support groups, and research currently under way for over 250 mitochondrial diseases

Mitochondrial Diseases, Volume 194 presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, genetic counseling and treatment options in mitochondrial diseases. Contents include specialist biochemical analyses and targeted molecular genetic testing, as well as first-line genome-wide sequencing to accelerate speed of diagnosis while avoiding time-consuming, expensive and invasive investigations. Establishing a genetic diagnosis allows patients with mitochondrial diseases to have reproductive options, all of which are covered within.This book is intended for neurologists to help them recognize and manage patients with mitochondrial diseases. - Examines the pathophysiology of mitochondrial diseases and disorders - Focuses on neurological symptoms of mitochondrial diseases - Presents myopathies, neuropathies, epilepsy, ataxia, paraplegias, and more - Covers histology, metabolism, genetic, and neuroimaging diagnostics - Summarizes both available and emerging therapies - Includes clinical trials, the use of biomarkers and reproductive options

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