Download or read book Mitochondrial Disease Genes Compendium written by Marni J. Falk, M.D. and published by Academic Press. This book was released on 2020-05-13 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Biochemistry and Molecular Biology Compendium written by Roger L. Lundblad and published by CRC Press. This book was released on 2019-11-11 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is an accessible resource offering practical information not found in more database-oriented resources. The first chapter lists acronyms with definitions, and a glossary of terms and subjects used in biochemistry, molecular biology, biotechnology, proteomics, genomics, and systems biology. There follows chapters on chemicals employed in biochemistry and molecular biology, complete with properties and structure drawings. Researchers will find this book to be a valuable tool that will save them time, as well as provide essential links to the roots of their science. Key selling features: Contains an extensive list of commonly used acronyms with definitions Offers a highly readable glossary for systems and techniques Provides comprehensive information for the validation of biotechnology assays and manufacturing processes Includes a list of Log P values, water solubility, and molecular weight for selected chemicals Gives a detailed listing of protease inhibitors and cocktails, as well as a list of buffers

Download or read book Catch Up Compendium written by Philip Bradley and published by Scion Publishing. This book was released on 2013 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This third edition of Catch up Compendium contains the most up-to-date editions of the three existing Catch Up books: Biology, Chemistry and Maths & Stats. It provides over 600 pages of background material essential for any student studying courses in the biological and biomedical sciences. The book provides a bridge between school and university c

Download or read book A Cabinet of Medical Curiosities written by Jan Bondeson and published by Cornell University Press. This book was released on 2019-01-24 with total page 276 pages. Available in PDF, EPUB and Kindle. Book excerpt: Long ago, curiosities were arranged in cabinets for display: a dried mermaid might be next to a giant's shinbone, the skeletons of conjoined twins beside an Egyptian mummy. In ten essays, Jan Bondeson brings a physician's diagnostic skills to various unexpected, gruesome, and extraordinary aspects of the history of medicine: spontaneous human combustion, colonies of snakes and frogs living in a person's stomach, kings and emperors devoured by lice, vicious tribes of tailed men, and the Two-Headed Boy of Bengal. Bondeson tells the story of Mary Toft, who gained notoriety in 1726 when she allegedly gave birth to seventeen rabbits. King George I, the Prince of Wales, and the court physicians attributed these monstrous births to a "maternal impression" because Mary had longed for a meal of rabbit while pregnant. Bondeson explains that the fallacy of maternal impressions, conspicuous in the novels of Goethe, Sir Walter Scott, and Charles Dickens, has ancient roots in Chinese and Babylonian manuscripts. Bondeson also presents the tragic case of Julia Pastrana, a Mexican Indian woman with thick hair growing over her body and a massive overgrowth of the gums that gave her a simian or ape-like appearance. Called the Ape Woman, she was exhibited all over the world. After her death in 1860, Julia's husband, who had also been her impresario, had her body mummified and continued to exhibit it throughout Europe. Bondeson tracked the mummy down and managed to diagnose Julia Pastrana's condition as the result of a rare genetic syndrome.

Download or read book Regenerative Biology and Medicine written by David L. Stocum and published by Academic Press. This book was released on 2012-06-07 with total page 474 pages. Available in PDF, EPUB and Kindle. Book excerpt: Regenerative Biology and Medicine, Second Edition — Winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — discusses the fundamentals of regenerative biology and medicine. It provides a comprehensive overview, which integrates old and new data into an ever-clearer global picture. The book is organized into three parts. Part I discusses the mechanisms and the basic biology of regeneration, while Part II deals with the strategies of regenerative medicine developed for restoring tissue, organ, and appendage structures. Part III reflects on the achievements of regenerative biology and medicine; future challenges; bioethical issues that need to be addressed; and the most promising developments in regenerative medicine. The book is designed for multiple audiences: undergraduate students, graduate students, medical students and postdoctoral fellows, and research investigators interested in an overall synthesis of this field. It will also appeal to investigators from fields not directly related to regenerative biology and medicine, such as chemistry, informatics, computer science, mathematics, physics, and engineering. - Highly Commended 2013 BMA Medical Book Award for Medicine - Includes coverage of skin, hair, teeth, cornea, and central neural tissues - Provides description of regenetive medicine in digestive, respiratory, urogenital, musculoskeletal, and cardiovascular systems - Includes amphibians as powerful research models with discussion of appendage regeneration in amphibians and mammals

Download or read book Uncovering Student Ideas in Science 25 formative assessment probes written by Page Keeley and published by NSTA Press. This book was released on 2005 with total page 206 pages. Available in PDF, EPUB and Kindle. Book excerpt: V. 1. Physical science assessment probes -- Life, Earth, and space science assessment probes.

Download or read book Lymphedema written by Byung-Boong Lee and published by Springer. This book was released on 2018-01-10 with total page 939 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of this book serves as a central source of theoretical and practical knowledge to optimize the evaluation and treatment of patients with lymphedema. The book covers all aspects of the disease from anatomical and histological features to diagnosis as well as physical/medical and surgical management of the disease. Updated from the first edition to reflect the substantial progress in diagnostics, medical care and surgical intervention for this patient population, this volume has been reorganized to meet today’s practice requirements. It addresses the challenges faced by clinicians in the management of chronic lymphedema enabling them to meet the medical needs of this large patient community. Edited by world leaders in Vascular Medicine and Surgery, this comprehensive volume provides clear, concise background and recommendations in an easy-to-use format. It is a valuable reference tool for clinical practitioners (physicians/nurse practitioners/technicians) who wish to deliver state-of-the-art health care to their patients with lymphatic and venous disorders.

Download or read book National Library of Medicine Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on with total page 762 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on 1993 with total page 1628 pages. Available in PDF, EPUB and Kindle. Book excerpt: First multi-year cumulation covers six years: 1965-70.

Download or read book Exosomes written by Lawrence R. Edelstein and published by Academic Press. This book was released on 2019-10-16 with total page 550 pages. Available in PDF, EPUB and Kindle. Book excerpt: Exosomes: A Clinical Compendium is a comprehensive and authoritative account of exosomes in the context of biomarkers, diagnostics, and therapeutics across a wide spectrum of medical disciplines, as well as their role in cell-cell communication. It is intended to serve as a reference source for clinicians, physicians, and research scientists who wish to gain insight into the most recent advances in this rapidly growing field. The exosome revolution may well be the greatest advance in physiology and medicine since antibiotics. The discovery of their epigenetic role in intercellular signaling in virtually all tissues is a major breakthrough in our understanding of how cells function. - Provides readers with a broad and timely overview of exosomes in health and disease, closing with a thought-provoking chapter on transgenerational inheritance, Darwin and Lamarck. - Summarizes the most recent laboratory and clinical findings on exosomes across numerous medical disciplines, thereby offering readers a broad-ranging and solid foundation for prospective investigative efforts - Twenty-one chapters authored by a global team of peer-acknowledged experts, each representing a key medical disciplineProvides readers with a broad and timely overview of exosomes in health and disease, closing

Download or read book Compendium of Methods for the Microbiological Examination of Foods written by APHA Technical Committee on Microbiological Methods for Foods and published by . This book was released on 1984 with total page 978 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Quick Compendium of Molecular Pathology written by Daniel D. Mais and published by American Society of Clinical Oncology. This book was released on 2008 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Handbook of Muscle Variations and Anomalies in Humans written by Eve K. Boyle and published by CRC Press. This book was released on 2022-03-08 with total page 904 pages. Available in PDF, EPUB and Kindle. Book excerpt: Most textbooks and atlases of human anatomy chronicle only a few cases of muscle variations in the "normal" human population, or of muscle anomalies within congenital malformations. Consequently, there is a misconception of what is considered "normal" human anatomy and what that looks like. Each person within the "normal" population has at least a few muscle variations, and there are millions of individuals born globally each year with muscle anomalies. There are crucial knowledge gaps between what is taught, what students learn, what textbooks and atlases show, and what truly happens in nature and within our species. This handbook fills this gap by: 1) providing a comparative evolutionary context for muscle variations and defects in humans, 2) summarizing the major types of variations and anomalies found in humans, and 3) including didactic figures for a visually engaging learning experience. This book is of interest to students, professors, and researchers in biological anthropology, comparative anatomy, functional morphology, zoology, and evolutionary and developmental biology, as well as to clinicians and practicing health professionals. Key Features Summarizes most recorded variations and anomalies for each muscle in the human body Provides information on the comparative anatomy of each muscle, including evolutionary differences from our closest living relatives, the apes Includes didactic illustrations of the variations and anomalies for a visually engaging learning experience Comprehensively reviews literature to document prevalence information for each variation and anomaly, within humans Related Titles Brown, D. E. Human Biological Diversity, 2nd ed. (ISBN 978-1-138-03753-3) Diogo, R., et al. Understanding Human Anatomy and Pathology: An Evolutionary and Developmental Guide for Medical Students (ISBN 978-1-4987-5384-5) Diogo, R. Muscles of Chordates: Development, Homologies, and Evolution (ISBN 978-1-138-57116-7)

Download or read book Compendium of Chrysanthemum Diseases written by Ralph Kenneth Horst and published by American Phytopathological Society. This book was released on 1997 with total page 92 pages. Available in PDF, EPUB and Kindle. Book excerpt: This essential reference contains 56 color photographs and accompanying text for identification, prevention, diagnosing, and controlling chrysanthemum diseases. Diseases are arranged according to casual agents for easy reference. Infectious diseases caused by fungi, bacteria, viruses, viroids, phytoplasmas, and nematodes are covered first followed by noninfectious diseases caused by physiological problems, environmental imbalances, air pollution, pesticide toxicity, and nutritional deficiencies and toxicities.

Download or read book The Biology of the Laboratory Rabbit written by Steven H. Weisbroth and published by Academic Press. This book was released on 2013-10-02 with total page 513 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Biology of the Laboratory Rabbit is a compendium of papers that discusses the use of the rabbit as an experimental substrate in the scientific process. The collection describes normative biology, research utilization, and rabbit disease. These papers emphasize naturally occurring diseases which affect the value of the rabbit as a research tool. Some papers describe these effects and their impact for investigators engaged in laboratory experimental work on animal medicine. Other papers tackle the value of certain rabbit diseases as models of considerable interest in comparative medicine. Several papers discuss bacterial diseases, viral diseases, protozoal diseases, arthropod parasites, helminth parasites, neoplastic diseases, inherited diseases, nutritional diseases, metabolic, traumatic, mycotic, and miscellaneous diseases of the rabbit. One paper describes a number of diseases that man can acquire from domestic and laboratory rabbits. These include tularemia (which is endemic in wild rabbits and hares), plague (transmitted by fleas), listeriosis (rare in laboratory rabbit colonies), salmonellosis (from rabbit feces), and Pasteurella multocida (common in laboratory and domestic rabbits). The paper notes that laboratory and domestic rabbits are not a major health hazard. The compendium can benefit veterinarians, the medically-oriented investigator, the biologist, the medical and chemical researcher, and others whose work involve laboratory animal care.

Download or read book Complex Systems Science in Biomedicine written by Thomas Deisboeck and published by Springer Science & Business Media. This book was released on 2007-06-13 with total page 857 pages. Available in PDF, EPUB and Kindle. Book excerpt: Complex Systems Science in Biomedicine Thomas S. Deisboeck and J. Yasha Kresh Complex Systems Science in Biomedicine covers the emerging field of systems science involving the application of physics, mathematics, engineering and computational methods and techniques to the study of biomedicine including nonlinear dynamics at the molecular, cellular, multi-cellular tissue, and organismic level. With all chapters helmed by leading scientists in the field, Complex Systems Science in Biomedicine's goal is to offer its audience a timely compendium of the ongoing research directed to the understanding of biological processes as whole systems instead of as isolated component parts. In Parts I & II, Complex Systems Science in Biomedicine provides a general systems thinking perspective and presents some of the fundamental theoretical underpinnings of this rapidly emerging field. Part III then follows with a multi-scaled approach, spanning from the molecular to macroscopic level, exemplified by studying such diverse areas as molecular networks and developmental processes, the immune and nervous systems, the heart, cancer and multi-organ failure. The volume concludes with Part IV that addresses methods and techniques driven in design and development by this new understanding of biomedical science. Key Topics Include: • Historic Perspectives of General Systems Thinking • Fundamental Methods and Techniques for Studying Complex Dynamical Systems • Applications from Molecular Networks to Disease Processes • Enabling Technologies for Exploration of Systems in the Life Sciences Complex Systems Science in Biomedicine is essential reading for experimental, theoretical, and interdisciplinary scientists working in the biomedical research field interested in a comprehensive overview of this rapidly emerging field. About the Editors: Thomas S. Deisboeck is currently Assistant Professor of Radiology at Massachusetts General Hospital and Harvard Medical School in Boston. An expert in interdisciplinary cancer modeling, Dr. Deisboeck is Director of the Complex Biosystems Modeling Laboratory which is part of the Harvard-MIT Martinos Center for Biomedical Imaging. J. Yasha Kresh is currently Professor of Cardiothoracic Surgery and Research Director, Professor of Medicine and Director of Cardiovascular Biophysics at the Drexel University College of Medicine. An expert in dynamical systems, he holds appointments in the School of Biomedical Engineering and Health Systems, Dept. of Mechanical Engineering and Molecular Pathobiology Program. Prof. Kresh is Fellow of the American College of Cardiology, American Heart Association, Biomedical Engineering Society, American Institute for Medical and Biological Engineering.

Download or read book The ESC Textbook of Vascular Biology written by Rob Krams and published by Oxford University Press. This book was released on 2017 with total page 347 pages. Available in PDF, EPUB and Kindle. Book excerpt: The ESC Textbook of Vascular Biology is a rich and clearly laid-out guide by leading European scientists providing comprehensive information on vascular physiology, disease, and research.