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Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease
This book is a printed edition of the Special Issue "Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease" that was published in JCM
Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease
Mitochondrial disease constitutes a complex and heterogeneous group of disorders resulting from a defect in mitochondrial respiratory chain (MRC) enzyme activity. In view of the dual regulation of the MRC, exercised by both the mitochondrial and nuclear genome, mutations in either mitochondrial or nuclear DNA can result in a MRC deficiency. Whilst a single organ can be affected, MRC disorders often result in a multi-organ system presentation with prominent neurological and myopathic features. The diagnosis of MRC disorders can be complex, and requires a coordinated interplay of a number of disciplines. However, biochemical determination of metabolites in blood, cerebral spinal fluid (CSF) an...
Mitochondrial Respiratory Chain Disorders
Mitochondrial respiratory (MRC) disorders are a phenotypically and genetically diverse group of diseases which have an estimated incidence of 1 in 5000, and can manifest at any age with virtually any symptom. These disorders are generally progressive and multi-systemic, typically affecting organs with high energy demands, although potentially any organ can be affected. In view of their wide spectrum of clinical symptoms, together with their complex genetics, the diagnosis of these disorders presents a real challenge and usually requires a multidisciplinary approach involving clinical, genetic, histological, and biochemical investigations. In addition, an MRC defect may also occur as a second...
Coenzyme Q10
There is a growing interest in coenzyme Q10 (CoQ10) and its involvement in many aspects of daily living including physical and mental health, energy, aging, stress, skin care and exercise. This book aims to highlight our current understanding of CoQ10 in each of these areas by presenting a selection of topics that clearly illustrates its role in both health and disease. Each chapter provides a specialist's insight into the subject whilst being written in a manner that is accessible to the non-CoQ10 expert. Is CoQ10 deficiency a contributor to heart disease, depression or migraines? Can taking CoQ10 supplements reduce symptoms of menopause, increase exercise tolerance or make our skin look younger? What is known about the genetics of CoQ10 biosynthesis? These are just some of the questions addressed in this book: which of them is fact and which is fiction?
Application of Omic Techniques to Identify New Biomarkers and Drug Targets for COVID-19
The COVID-19 pandemic caused by the SARS-CoV-2 virus has affected nearly every country and territory in the world. Although worldwide vaccination efforts have reduced the risk of serious disease outcomes, disparities in distribution have led to multiple waves of SARS-CoV-2 outbreaks and the emergence of variants of concern, some of which have enhanced infectivity and ability to evade existing vaccines. Hence there is an increasing interest in understanding the evolution of viruses like SARS-CoV-2, as well as improving our capacity to effectively current and manage future pandemics. This new volume reviews the most effective omic techniques for increasing our understanding of COVID-19, to imp...
Reviews on Biomarker Studies in Aging and Anti-Aging Research
Using both epidemiological and model organism approaches, we have gained new insights into the physiological and molecular aspects of aging, which has led to significant advancements in potential anti-aging strategies. Reviews on Biomarker Studies in Aging and Anti-Aging Research presents a series of reviews in various aspects of aging and age-related disease research along with several methods which have shown progress as potential anti-aging approaches. The book is aimed at researchers in the areas of aging and chronic disease, as well as to clinical scientists, physicians and major drug companies. It provides important information on disease mechanisms, and each chapter is presented in the context of the aging process, specific chronic diseases or different therapeutic areas.
Reviews on New Drug Targets in Age-Related Disorders
Aging is an inevitable part of life, and is becoming a worldwide social, economic and health problem due to the fact that an increasing proportion of individuals in the advanced age category have a higher probability of developing age-related disorders. New therapeutic approaches are still in need to decrease or slow the effects of such diseases in this aging society. Advances in ‘omic technologies such as genomics, transcriptomics, proteomics and metabolomics have significantly advanced our understanding of diseases in multiple medical areas. It is hoped that emerging hits from these analyses might be prioritized for further screening as potential novel drug targets for increasing the hum...
Assault on Charlestown
Decades before the calamitous events in Charlestown, Captain Alice Davenport and the crew of the BCRS Fiennes suffered their own disastrous encounter with the Varla K’dyamon. Their spaceship destroyed, they find themselves marooned on Eskelon IV, a planet they were studying for future colonisation. It now appears to be their permanent home with no chance of rescue. Furthermore, the outcome of the Varla K’dyamon’s battle with an ancient alien defensive system is unknown. The greatest threat to their survival may come from space, not from their new habitat.Roman and Mint continue to work for Department 44, desperately seeking knowledge and weapons that may allow them to combat the threat posed by Tiada Vejour. But, they aren’t the only ones hard at work on Obsirion II; plans and projects are coming to fruition in Charlestown. The malevolent alien still plans to enslave the entire population of the planet and call surviving members of its clan to a vast source of energy.
JIMD Reports, Volume 25
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Structural Design in Building Conservation
No building is properly conserved if it is not structurally sound. Consequently architects, engineers and conservation officers need an adequate grounding in the technology, the materials and the historic origins of the building in order to complete a conservation project successfully. Structural Design in Building Conservation deals with design issues and technical choices, showing how they are integrated with the planning and architectural outcomes in a conservation project. It brings together theory with current conservation technology, discussing the possibilities of structural details and strategies in architectural expression. Case studies are central to this, and these are organised a...
