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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
Radiations, or Evolution in Action We have just celebrated the “Darwin Year” with the double anniversary of his 200th birthday and 150th year of his masterpiece, “On the Origin of Species by means of Natural Selection”. In this work, Darwin established the factual evidence of biological evolution, that species change over time, and that new organisms arise by the splitting of ancestral forms into two or more descendant species. However, above all, Darwin provided the mechanisms by arguing convincingly that it is by natural selection – as well as by sexual selection (as he later added) – that organisms adapt to their environment. The many discoveries since then have essentially con?rmed and strengthened Darwin’s central theses, with latest evidence, for example, from molecular genetics, revealing the evolutionary relationships of all life forms through one shared history of descent from a common ancestor. We have also come a long way to progressively understand more on how new species actually originate, i. e. on speciation which remained Darwin’s “mystery of m- teries”, as noted in one of his earliest transmutation notebooks. Since speciation is the underlying mechanism for radiations, it is the ultimate causation for the biological diversity of life that surrounds us.
Alzheimer's disease (AD) is the leading cause of dementia in the elderly, characterized by neurofibrillary tangles, senile plaques and a progressive loss of neuronal cells in selective brain regions. Mitochondrial dysfunction is a prominent and early feature of the disease, although the reason for this is unclear. Nonetheless, emerging evidence suggest that mitochondrial function is dependent on the dynamic balance of fission and fusion events which are regulated by mitochondria fission and fusion proteins (i.e. DLP1/OPA1/Mfn1/Mfn2/Fis1). While an impaired balance of mitochondria fission and fusion is being increasingly implicated in neurodegenerative diseases, few studies have examined this aspect in AD. To address this issue, in this study, we investigated mitochondria morphology and distribution in primary fibroblasts and neurons from normal subjects and those from AD patients. We found disease-related changes in mitochondrial morphology and distribution as well as changes in expression levels and distribution of mitochondrial fission and fusion proteins. To understand the underlying mechanisms of these mitochondria alterations in AD, we overexpressed or knocked down functional mitochondrial fission and fusion proteins in primary human fibroblasts, M17 cells (derived from a human neuroblastoma) and rat E18 primary hippocampal neurons. Interestingly, functional protein changes in AD fibroblasts or neurons mimicking that found in AD, are correlated with similar changes in mitochondrial morphology and distribution to that observed in AD fibroblasts or neurons. We further demonstrated that ROS or amyloid-beta are likely the potential pathogenic factor that causes an impaired balance of mitochondrial fission/fusion, mitochondria dysfunction and even synaptic abnormalities. Taken together, this is the first study to show that ROS or amyloid-beta might induce mitochondria dynamic abnormalities in mitochondria, mitochondrial dysfunction and further neuronal dysfunction through their different effect on mitochondrial fission and fusion proteins.
Studies on Men’s Health and Fertility provides a comprehensive series of up-to-the-minute reviews addressing the role of oxidative stress in the aetiology of reproductive pathologies in the male. This volume represents by far the most detailed, authoritative review of the field that has been produced to date. The text encompasses the basic science of reactive oxygen species (ROS) production by mammalian spermatozoa, the way in which these highly reactive molecules are processed by the germ line and the physiological significance of this redox activity in the generation of a functional gamete. The factors responsible for perturbing the delicate balance between physiological redox signaling on the one hand and oxidative stress on the other are also extensively reviewed and some of the first clues concerning the underlying mechanisms (age, heat, infection, cryostorage, aberrant lipid metabolism), clearly identified. From a clinical perspective there are chapters setting out the methods we should be using to diagnose oxidative stress in the male germ line, a clinical perspective on the aetiology of this condition and detailed considerations of the most suitable means of ameliorating such stress from a therapeutic point of view. Studies on Men’s Health and Fertility is intended to provide clinicians and scientists with a snap shot of the current status of this exciting, rapidly moving field. The book will be of value to clinicians interested in strategies for the management of oxidative stress in their infertility patients and scientists wishing to understand the molecular mechanisms underpinning the generation of ROS by these cells and its pathophysiological significance. It was not so long ago that the ability of spermatozoa to generate ROS was a hotly disputed topic. With the publication of this book such doubts can finally be laid to rest. There is now no doubt that these cells actively generate ROS, that oxidative stress is a major contributor to defects in male reproductive health and that the successful clinical management of this condition depends on developing a deeper understanding of the underlying molecular mechanisms. In this quest, Studies on Men’s Health and Fertility will be seen as a clear and important milestone.
Innovative microscopic techniques, introduced during the last two decades, have contributed much to creating a new picture of the dynamic architecture of the cell, which can now be more exactly correlated with specific biochemical and physiopathological events. These developments have led to significant advances in our understanding of the physiomorphological and pathological aspects of the secretory mechanism, as well as the pharmacologic methods used to control, experimentally, the function of exocrine and endocrine glands. The integration of new ultrastructural methods such as freeze-fracture/etching, immunocytochemistry, scanning and high-voltage electron microscopy, cytoautoradiography, etc. , has proven to be of great value when applied to the study of endocrine cells and tissues. Because information on this topic has appeared in a variety of scientific and medical journals, this book: (1) reviews the results of an integrative approach presenting a comprehensive ultrastructural account of the main aspects of the field; (2) points out gaps or controversial topics in our knowledge; and (3) outlines pertinent directions for future research. The chapters, prepared by recognized authorities in the field, present traditional information on the topic in a concise manner and, with a valuable selection of original illustrations, show what the integration of new microscopic methods can contribute to the subject in terms of new concepts. This volume will be useful to cell biologists, anatomists, embryologists, histologists, pharmacologists, pathologists, and, of course, endocrinologists. It will also be of interest to students, practitioners of medicine, and to all others dealing with clinical research and diagnosis.
This work provides a clear foundation for understanding the underlying mechanisms by which animals have evolved to move in their physical environment. It integrates the biomechanics of animal movement with the physiology of animal energetics and the neural control of locomotion.
Unequalled in scope, depth, and clinical precision, Retina, 5th Edition keeps you at the forefront of today’s new technologies, surgical approaches, and diagnostic and therapeutic options for retinal diseases and disorders. Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any question you may face in practice. Consult this title on your favorite e-reader with intuitive search tools and adjustable font sizes. Elsevier eBooks provide instant portable access to your entire library, no matter what device you're using or where you're located. Examine and evaluate the newest diagnostic technologies and approaches that are changing the management of retinal disease, including future technologies which will soon become the standard. Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice. Benefit from the extensive knowledge and experience of esteemed editor Dr. Stephen Ryan, five expert co-editors, and a truly global perspective from 358 other world authorities across Europe, Asia, Australasia, and the Americas. Make the best use of new technologies with expanded and updated coverage of optical coherence tomography (OCT), fundus imaging, and autofluorescence imaging. Apply the latest knowledge on anti-VEGF therapy for age related macular degeneration, diabetic retinopathy and vein disease. Learn about artificial vision, drug delivery to the posterior segment, advances in macular surgery, vitrectomy, and complex retinal detachment, with updates on tumors, retinal genetics, cell biology, important basic science topics, and much more. Get the most out of new pharmacologic approaches in the management of age-related macular degeneration and diabetic retinopathy. In your practice, diagnostic evaluations, and now even treatments, will be influenced by recent scientific discoveries such as in the areas of nanotechnology, neuro protection, stem cells and gene therapy, among other scientific contributions. View videos of surgical procedures and access the complete contents of Retina, 5th Edition online at www.expertconsult.com, fully searchable, with regular updates and a downloadable image gallery.

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