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Centro De Investigacion Biomedica En Red De Enfermedades Raras Ciberer
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Author :Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Publisher : ISBN 13 : Total Pages :82 pages Book Rating :4.:/5 (11 download)
Book Synopsis Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER). by : Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)
Download or read book Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER). written by Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) and published by . This book was released on 2010 with total page 82 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Enfermedades raras by : Francesc Palau
Download or read book Enfermedades raras written by Francesc Palau and published by LOS LIBROS DE LA CATARATA. This book was released on 2020-10-09 with total page 121 pages. Available in PDF, EPUB and Kindle. Book excerpt: Las enfermedades raras son trastornos o condiciones poco frecuentes que afectan a la salud de una pequeña parte de la población, si bien, en su conjunto, son un problema de salud pública. En la Unión Europea se reconocen como tales aquellas que tienen una prevalencia menor de 5 afectados por 10.000 habitantes. Se ha estimado que el 6% de los europeos puede padecer alguna de ellas. En este libro se aborda la historia reciente de las enfermedades raras y su proceso de reconocimiento y asentamiento social, los aspectos médicos y sanitarios, la investigación científica y la relevancia de la genética y del estudio del genoma en su diagnóstico y tratamiento. Entre los retos que se plantean destacan la cuestión de los pacientes sin diagnóstico y el desarrollo de nuevas terapias.
Book Synopsis JIMD Reports - Case and Research Reports, 2012/5 by : Johannes Zschocke
Download or read book JIMD Reports - Case and Research Reports, 2012/5 written by Johannes Zschocke and published by Springer Science & Business Media. This book was released on 2012-10-01 with total page 155 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Neurodegenerative Diseases by : Shamim I. Ahmad
Download or read book Neurodegenerative Diseases written by Shamim I. Ahmad and published by Springer Science & Business Media. This book was released on 2012-03-12 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: The editor of this volume, having research interests in the field of ROS production and the damage to cellular systems, has identified a number of enzymes showing ·OH scavenging activities details of which are anticipated to be published in the near future as confirmatory experiments are awaited. It is hoped that the information presented in this book on NDs will stimulate both expert and novice researchers in the field with excellent overviews of the current status of research and pointers to future research goals. Clinicians, nurses as well as families and caregivers should also benefit from the material presented in handling and treating their specialised cases. Also the insights gained should be valuable for further understanding of the diseases at molecular levels and should lead to development of new biomarkers, novel diagnostic tools and more effective therapeutic drugs to treat the clinical problems raised by these devastating diseases.
Book Synopsis Mitochondrial Disorders Caused by Nuclear Genes by : Lee-Jun C. Wong
Download or read book Mitochondrial Disorders Caused by Nuclear Genes written by Lee-Jun C. Wong and published by Springer Science & Business Media. This book was released on 2012-09-18 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis The Rose and Mackay Textbook of Autoimmune Diseases by : M. Eric Gershwin
Download or read book The Rose and Mackay Textbook of Autoimmune Diseases written by M. Eric Gershwin and published by Elsevier. This book was released on 2024-08-05 with total page 1842 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Rose-Mackay Textbook of Autoimmune Diseases, Seventh Edition is a comprehensive reference that emphasizes the "3 P's" of 21st Century medicine: precision, prediction, and prevention. Topics cover the modern systems approach to biology that involves large amounts of personalized, ongoing physiologic data ("omics") coupled with advanced methods of analysis, new tests of genetic engineering, such as CRISPR, auto inflammatory diseases, autoimmune responses to tumor immunotherapy, and information on normal immune response and disorders. Each of the major autoimmune disorders is discussed by researchers and clinical investigators experienced in dealing with patients. This new edition continues its success with 75% of the content revised, updated, or completely new. This edition is a valuable resource to clinicians involved in the diagnosis and treatment of autoimmune disease, as well as to scientists who want to follow developments in the field. - Provides new research on autoimmune diseases, their diagnosis, prevention, and therapy - Covers a complete range of all common, rare and new autoimmune diseases, including cancer and COVID - Extensively revised with 75% new material based on autoimmunity, developments in the different diagnosis and therapies for these autoimmune diseases, and a completely updated description of the different diseases - Supplemented with a website that hosts a Podcast per chapter
Book Synopsis Epidemiology and Genetics of Vestibular Disorders by : Jose Antonio Lopez-Escamez
Download or read book Epidemiology and Genetics of Vestibular Disorders written by Jose Antonio Lopez-Escamez and published by Frontiers Media SA. This book was released on 2021-11-12 with total page 172 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Neurogenetics, Part I written by and published by Elsevier. This book was released on 2018-01-08 with total page 438 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic methodologies are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is evolving rapidly and expected to grow in scope as more disorders are linked to specific genetic markers. Part I covers basic genetic concepts and recurring biological themes, and begins the discussion of movement disorders and neurodevelopmental disorders, leading the way for Part II to cover a combination of neurological, neuromuscular, cerebrovascular, and psychiatric disorders. This volume in the Handbook of Clinical Neurology will provide a comprehensive introduction and reference on neurogenetics for the clinical practitioner and the research neurologist. - Presents a comprehensive coverage of neurogenetics - Details the latest science and impact on our understanding of neurological psychiatric disorders - Provides a focused reference for clinical practitioners and the neuroscience/neurogenetics research community
Book Synopsis Adrenal insufficiency: Diagnostic approaches, treatments, and outcomes by : Elena Valassi
Download or read book Adrenal insufficiency: Diagnostic approaches, treatments, and outcomes written by Elena Valassi and published by Frontiers Media SA. This book was released on 2023-05-04 with total page 91 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Neural Metabolism In Vivo by : In-Young Choi
Download or read book Neural Metabolism In Vivo written by In-Young Choi and published by Springer Science & Business Media. This book was released on 2012-03-14 with total page 1168 pages. Available in PDF, EPUB and Kindle. Book excerpt: From the preface: “Neural Metabolism In Vivo aims to provide a comprehensive overview of neurobiology by presenting the basic principles of up-to-date and cutting-edge technology, as well as their application in assessing the functional, morphological and metabolic aspects of the brain. Investigation of neural activity of the living brain via neurovascular coupling using multimodal imaging techniques extended our understanding of fundamental neurophysiological mechanisms, regulation of cerebral blood flow in connection to neural activity and the interplay between neurons, astrocytes and blood vessels. Constant delivery of glucose and oxygen for energy metabolism is vital for brain function, and the physiological basis of neural activity can be assessed through measurements of cerebral blood flow and consumption of glucose and oxygen.... This book presents the complex physiological and neurochemical processes of neural metabolism and function in response to various physiological conditions and pharmacological stimulations. Neurochemical detection technologies and quantitative aspects of monitoring cerebral energy substrates and other metabolites in the living brain are described under the “Cerebral metabolism of antioxidants, osmolytes and others in vivo” section. Altogether, the advent of new in vivo tools has transformed neuroscience and neurobiology research, and demands interdisciplinary approaches as each technology could only approximate a very small fraction of the true complexity of the underlying biological processes. However, translational values of the emerging in vivo methods to the application of preclinical to clinical studies cannot be emphasized enough. Thus, it is our hope that advances in our understanding of biochemical, molecular, functional and physiological processes of the brain could eventually help people with neurological problems, which are still dominated by the unknowns.” -- In-Young Choi and Rolf Gruetter
Book Synopsis Current Challenges in Complement Diagnostics by : Erik J.M. Toonen
Download or read book Current Challenges in Complement Diagnostics written by Erik J.M. Toonen and published by Frontiers Media SA. This book was released on 2023-12-14 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: The complement system is an important innate immune surveillance network that has a key role in protecting our bodies against pathogens and other threats. It is a highly complex system consisting of approximately 50 soluble and cell surface-bound proteins that interact to eliminate danger signals. These signals include factors such as invading microorganisms, necrotic cells, and immune complexes. Furthermore, complement can link innate and adaptive immune responses by regulating T cell and B cell responses. The complement system is tightly regulated to avoid uncontrolled activation. Dysregulation of the complement system has been linked to numerous diseases, both rare and common. Uncontrolled or exaggerated activation can lead to life-threatening conditions such as dysregulation of coagulation, fibrinolysis, systemic inflammation and shock, and possible failure of a variety of organs such as the eyes, kidneys, skin, brain, and vascular system. In recent years, the complement system has gained increased interest, especially as a promising candidate for therapeutic intervention. Eculizumab, the first approved complement inhibitor, is highly effective for treating atypical hemolytic uremic syndrome (aHUS) and paroxysmal nocturnal hemoglobinuria (PNH). Many more drug candidates are currently evaluated in ongoing clinical trials.
Book Synopsis Hot Topics in Cell Biology by : José Becerra
Download or read book Hot Topics in Cell Biology written by José Becerra and published by Chartridge Books Oxford. This book was released on 2012 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: Summary This book is a definitive overview of the current 'state of the art' in cell biology. It is based on papers presented by leading researchers at the Spanish Society for Cell Biology's XIV Congress - a Congress that strives to achieve scientific excellence. Each participant was asked to prepare a 'mini review' of current and likely future development in their area of research. This book is based on those reviews. As such, it is therefore an analysis of current and future trends. Key Features Contains contributions from some of the world's leading researchers. The book is multidisciplinary, covering almost all topics in cell biology: from basic to applied cell biology, and a wide variety of models: from in vitro to vivo models, ranging from fish to rodents and humans. Each 'mini review' is an easy-read piece, describing the state of the art on a topic with clear language and in a summary format. The mini review format makes the book attractive not only to readers involved in cell biology research and teaching, but also professionals from other disciplines and students. The book takes a truly multidisciplinary approach; it covers a wide array of topics, and the book reflects how cell biology interacts with other disciplines The Editors Jose Becerra is Professor of Cell Biology at the University of Málaga (Spain) since 1989. He has been Dean Secretary, Vice-Dean and Dean of the Faculty of Sciences of Málaga, and is now the Head of the Department of Cell Biology, Genetics and Physiology. From 2001 to 2003 he was the Director of the Andalusian Laboratory of Biology (LAB, Seville), which was converted in the Andalusian Centre for Developmental Biology (CABD) under his term. He is a member of the Technical Committee of the National Stem Cell Bank since 2007, patron of the Board of Trustees of IMABIS Foundation (Mediterranean Institute for the Advance of Biotechnology and Health Research), coordinator of the Biomaterials and Tissue Engineering Area of the the Biomedical Research Networking Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), and member of the Direction Committee of the CIBER-BBN. Leonor Santos-Ruiz is Senior Researcher of the CIBER-BBN network at the Andalusian Center for Nanomedicine and Biotechnology (BIONAND). She started her career studying the cellular and molecular basis of lower vertebrates' amazing ability for tissue regeneration, with a special attention to bone and spinal cord repair. Readership Cell biology academics and researchers Contents Introduction Dynamics of cell compartments The intracellular trafficking Cell signaling Autophagy, apoptosis and cell homeostasis Cell biology of aging Plant cell biology Methods in cell biology Applied cell biology Cell biology of cancer Cell therapies and tissue engineering Neurodegeneration and cell biology Nanotechnology and cell biology: challenges and opportunities
Book Synopsis Cushing's Disease by : Edward R. Laws Jr
Download or read book Cushing's Disease written by Edward R. Laws Jr and published by Academic Press. This book was released on 2016-11-08 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cushing's Disease: An Often Misdiagnosed and Not So Rare Disorder reviews the epidemiology of Cushing's, including statistics on the incidence and prevalence of this disease. There are discussions of the signs and symptoms and the most common co-morbidities, such as diabetes mellitus, hypertension, osteoporosis, amenorrhea, and infertility. Surgical, medical, and radiotherapeutic treatments, including indications, results, risks, and complications, are reviewed. Also featured is a chapter on the patient's perspective, coping with Cushing's, quality of life, and psychosomatic issues. This book is essential reading for the wide range of physicians who treat patients with Cushing's disease symptoms, as well as biomedical researchers who investigate the etiology and mechanisms of rare genetic diseases, in particular rare endocrine disorders. - Reviews the basics of Cushing's disease and its interrelation with hormones, the brain, and bodily functions - Includes chapters on diagnosis, surgical, medical, and radiotherapeutic treatments, and variations in presentation, including cyclical disease - Presents the cognitive and emotional aspects of Cushing's and the long-term sequelae - Offers an important resource for physicians who are accustomed to treating individual symptoms rather than a disease complex - Reviews multidisciplinary management, and post-treatment management of Cushing's, including recommendations for Cushing's Centers of Excellence
Book Synopsis Mouse as a Model Organism by : Cord Brakebusch
Download or read book Mouse as a Model Organism written by Cord Brakebusch and published by Springer Science & Business Media. This book was released on 2011-03-29 with total page 176 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cell culture based research is important for our understanding of biological processes at the cellular and molecular level. Using this approach, the previous decades have produced a wealth of mechanistic information in all areas of biomedical research. Such in vitro research, however, lacks the complexity of in vivo investigations, where many different cell types interact with each other in a normal, three-dimensional environment, with normal levels of cytokines and growth factors. Furthermore, complex human diseases, such as cancer, diabetes or chronic inflammation, can only be modeled in vivo. Due to its small size, its short reproduction time, and the possibility to introduce specific gene mutations, the mouse has become the favourite mammalian model organism to study in vivo function of genes during development and in disease. This book combines review articles on selected subjects presented at the symposium “Mouse as a Model Organism – From Animals to Cells”, held in Rovaniemi, Finland, 2009. Among other topics, high-throughput phenotyping of mouse mutants, mouse phenotypes dependent on nature and nuture, and a spectrum of in vivo, ex vivo and in vitro methods to study cancer in mice are described. This book will give an excellent introduction to scientists interested in the use of mice as a model to understand complex biological questions in the post-genomic era. It will highlight the possibilities, but also discuss the current problems and shortcomings, to give a realistic view of the current state-of-art in this fascinating field of biomedical research.
Book Synopsis From Nucleic Acids Sequences to Molecular Medicine by : Volker A. Erdmann
Download or read book From Nucleic Acids Sequences to Molecular Medicine written by Volker A. Erdmann and published by Springer Science & Business Media. This book was released on 2012-06-13 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: Despite a half century of structural, biophysical and biochemical investigations of ribonucleic acids, they are still mysterious. RNAs stand at fertile crossroads of disciplines, integrating concepts from genomics, proteomics, dynamics as well as biochemistry and molecular biology. From 20 years it is clear, that genetic regulation of eukaryotic organisms has been misunderstood for the last years that the expression of genetic information is effected only by proteins. Basic understanding of nucleic acids has enhanced our foundation to probe novel biological functions. This is especially evident for RNA molecules whose functionality, maturation, and regulation require formation of correct secondary structure through encoded base-pairing interactions.
Book Synopsis Advanced Protocols for Animal Transgenesis by : Shirley Pease
Download or read book Advanced Protocols for Animal Transgenesis written by Shirley Pease and published by Springer Nature. This book was released on 2011-08-30 with total page 671 pages. Available in PDF, EPUB and Kindle. Book excerpt: This laboratory manual, published in cooperation with the International Society for Transgenic Technology (ISTT), provides almost all current methods that can be applied to the creation and analysis of genetically modified animals. The chapters have been contributed by leading scientists who are actively using the technology in their laboratories. Based on their first-hand experience the authors also provide helpful notes and troubleshooting sections. Topics range from standard techniques, such as pronuclear microinjection of DNA, to more sophisticated and modern methods, such as the derivation and establishment of embryonic stem (ES) cell lines, with defined inhibitors in cell culture medium. In addition, related topics with relevance to the field are addressed, including global web-based resources, legal issues, colony management, shipment of mice and embryos, and the three R’s: refinement, reduction and replacement.
Book Synopsis Advances in Glutamic Acid Research and Application: 2011 Edition by :
Download or read book Advances in Glutamic Acid Research and Application: 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 153 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Glutamic Acid Research and Application: 2011 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Glutamic Acid in a concise format. The editors have built Advances in Glutamic Acid Research and Application: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Glutamic Acid in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Advances in Glutamic Acid Research and Application: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
