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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 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 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 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 2012-10-02 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 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 Hereditary Hemorrhagic Telangiectasia by : Hans-Jurgen Mager
Download or read book Hereditary Hemorrhagic Telangiectasia written by Hans-Jurgen Mager and published by MDPI. This book was released on 2021-05-04 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hereditary hemorrhagic telangiectasia (HHT) is an inherited disease that affects the blood vessels, and is characterized by direct connections between arteries and veins with no intervening capillaries. These abnormal vessels may appear in the skin as tiny red dilated blood vessels in the mouth, lips, fingers and toes. The presence of these vascular lesions in the mucosa can lead to spontaneous and recurrent nose bleeding, typically beginning in mid-childhood, and this is the most common clinical manifestation of HHT, occurring in over 90% of patients. Gastrointestinal bleeding, derived from mucocutaneous vascular lesions, affects approximately 25% of patients, almost always presenting after the age of 50. Chronic nasal and gastrointestinal bleeding can cause iron-deficiency anemia, and current therapeutic strategies are trying to minimize iron and blood transfusions. HHT patients also present large vascular lesions, known as arteriovenous malformations, that occur in internal organs like lungs, liver, and brain, and may result in life-threatening complications often related to the shunting of blood. This book not only highlights the current knowledge regarding diagnosis and treatment of HHT, but also the newest insights in the molecular basis of HHT, the understanding of which is essential for the development of new medicines or therapeutic strategies.
Book Synopsis Down Syndrome: From Understanding the Neurobiology to Therapy by :
Download or read book Down Syndrome: From Understanding the Neurobiology to Therapy written by and published by Elsevier. This book was released on 2012-10-16 with total page 273 pages. Available in PDF, EPUB and Kindle. Book excerpt: Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures. - Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research - Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered - All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist
Book Synopsis Mitochondrial Diseases by : Placido Navas
Download or read book Mitochondrial Diseases written by Placido Navas and published by Springer Nature. This book was released on 2021-07-30 with total page 308 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mitochondrial diseases comprise a clinically and genetically heterogeneous group of rare disorders that may affect virtually any system of the body at any age. Due to their complexity, understanding and diagnosing these diseases requires a multidisciplinary approach. This book provides an update on the major features of human mitochondrial diseases: genetic bases, pathophysiology, diagnosis, and treatment, and of the new technologies involved in the diagnosis and on the characterization of patients. The 11 chapters examine the unique complex interactions between the mitochondrial and the nuclear genomes involved in the biogenesis and the regulation of the mitochondrial respiratory chain, and their relevance to human disease. We discuss the traditional biochemical and genetic approaches, as well as the new omic technologies, and the cellular and animal models used in mitochondrial research. The last chapter is dedicated to the current treatment options. Authors are worldwide experts in these fields and integrate expertise in both basic science and clinical research. This book is particularly important for both scientists and clinicians interested in the diagnosis and treatment of these diseases.
Book Synopsis Rare Diseases Epidemiology: Update and Overview by : Manuel Posada de la Paz
Download or read book Rare Diseases Epidemiology: Update and Overview written by Manuel Posada de la Paz and published by Springer. This book was released on 2017-12-06 with total page 675 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.
Book Synopsis Pituitary Adenomas by : Gianluca Tamagno
Download or read book Pituitary Adenomas written by Gianluca Tamagno and published by Springer Nature. This book was released on 2022-01-31 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: Stemming from the ENEA Young Researcher Committee, this didactical book comprehensively discusses all aspects of pituitary adenomas, particularly the practical aspects arising in everyday clinical practice. Offering valuable tips, it serves as a guide for young trainee endocrinologists facing their first cases of pituitary adenomas. It also includes illustrative clinical cases of acromegaly, prolactinomas, Cushing’s disease, and TSHomas. In addition, a Questions & Answers section is available online. The mix of fresh enthusiasm and well-established expertise in the field provided by the editors and the committee they belong to make the book both solid and innovative, with an appropriate balance between the traditional knowledge and the most exciting innovations from recent or ongoing research. Written and edited by young researchers active in the field of neuroendocrinology, it is a valuable resource for anyone working or interested in the field.
Book Synopsis Osteogenesis Imperfecta by : Javaid Kassim
Download or read book Osteogenesis Imperfecta written by Javaid Kassim and published by Academic Press. This book was released on 2013-08-06 with total page 578 pages. Available in PDF, EPUB and Kindle. Book excerpt: Osteogenesis Imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Although several reviews of the field have been published in various journals, there is no other single source for a compendium of current information. Separate chapters discuss each of the several clinical features of OI. Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child and the OI adult. The role of physical medicine and rehabilitation for OI patients is also presented, along with the current status of OI medical treatment and the prospects for genetic engineering in the future. The text also provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI. - Incorporates chapters and information on the ethical issues related to osteogenesis imperfecta (OI) as will the importance of nutrition in managing the OI child and the OI adult - Offers new insights into the underlying mechanisms of collagen biochemistry as related to OI as well as a presentation of intracellular collagen processing and the expanded role of protein chaperones in OI - Discusses the role of physical medicine and rehabilitation for OI patients and the current status of OI medical treatment as well as prospects for genetic engineering in the future - Provides a unique overview for the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI
Author :Management Association, Information Resources Publisher :IGI Global ISBN 13 :1668424150 Total Pages :663 pages Book Rating :4.6/5 (684 download)
Book Synopsis Research Anthology on Improving Health Literacy Through Patient Communication and Mass Media by : Management Association, Information Resources
Download or read book Research Anthology on Improving Health Literacy Through Patient Communication and Mass Media written by Management Association, Information Resources and published by IGI Global. This book was released on 2021-07-16 with total page 663 pages. Available in PDF, EPUB and Kindle. Book excerpt: Increasing health literacy among patients is a difficult task as medical jargon and healthcare directions can be overwhelming and difficult to comprehend. In today’s digital world, people are more connected than ever before and have the ability to find healthcare information in a way that was not possible in recent years. Mass media and social media have become particularly influential in conveying health information to the public. With the amount of misinformation being spread, coupled with poor health literacy skills, it is imperative that new strategies and policies are undertaken to ensure that patients and the general public receive accurate information and are appropriately educated in order to provide them with the best possible knowledge and care. The Research Anthology on Improving Health Literacy Through Patient Communication and Mass Media provides an overview of the importance of health literacy and the various means to achieve health literacy for patients using several strategies and elements such as patient communication and mass media. The book covers health awareness challenges that have been faced recently and historically and pushes for better patient-provider communication. The book also examines the use of social media, virtual support groups, and technological tools that aid in the facilitation of health knowledge. Covering a range of key topics such as patient safety, health illiteracy, and eHealth, this anthology is crucial for healthcare professionals, researchers, academicians, students, and those interested in understanding the importance of health literacy and how it connects to media and communication.
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:
