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H63d Syndrome
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Book Synopsis Hemochromatosis & related Syndromes by : Thomas Berg
Download or read book Hemochromatosis & related Syndromes written by Thomas Berg and published by BoD – Books on Demand. This book was released on 2020-01-06 with total page 37 pages. Available in PDF, EPUB and Kindle. Book excerpt: Among the rare diseases, hemochromatosis and H63D syndrome are some of the better known. And yet they are often diagnosed far too late. This is due to a fundamental problem: many people, doctors and patients alike, are unaware of the diversity of these diseases and their varying symptomatic manifestations. This short and compact e-book will provide answers to many questions despite its brevity, and maybe help to save your health.
Download or read book H63D Syndrome written by Sven Sørensen and published by BoD – Books on Demand. This book was released on 2020-01-21 with total page 17 pages. Available in PDF, EPUB and Kindle. Book excerpt: Oslo Syndrome (in research still known as H63D Syndrome) is a worldwide health problem in the field of iron metabolism disorders. After scientists from all over the world joined together in 2019 to form the H63D Syndrome Consortium, the consensus paper "H63D Syndrome" was adopted at a meeting in Oslo in December 2019. On the occasion of the 2022 conference the syndrome was renamed Oslo Syndrome for clinical settings. It is available in bookshops for a symbolic price. Also free of charge directly from the consortium.
Book Synopsis Egomaniacal idiots by : Marianne Kaufmann
Download or read book Egomaniacal idiots written by Marianne Kaufmann and published by BoD – Books on Demand. This book was released on 2020-01-02 with total page 38 pages. Available in PDF, EPUB and Kindle. Book excerpt: The true story of the fight of a mother against the medical establishment to rescue her son from HFE Gene H63D Mutation Syndrome, also known as H63D-Syndrome. Unwilling to accept incompetent health professionals, Marianne fought to uncover what was causing the terrible decline of her son. While the battle lines were firmly drawn, Marianne did not stop to support her tormented son until finally she and her family found doctors who could answer all the questions that had remained unanswered for thirty years. Now Marianne is sharing her important knowledge with the global public in a short and affordable e-book.
Book Synopsis The real Oshtoran Syndrome by : Simon Nathan
Download or read book The real Oshtoran Syndrome written by Simon Nathan and published by BoD – Books on Demand. This book was released on 2023-09-26 with total page 30 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a whirlwind collision of medical science and pop culture, Oshtoran Syndrome uncovers a medical enigma that defies conventions. First unearthed by the Zafarian brothers in Iran and later propelled into the limelight by the Adams Group, this puzzling disorder finds its guardianship under the esteemed International H63D Mutation Syndrome Research Consortium. Spearheaded by Chairman Riku Honda and his unwavering Vice Chairman Dr. Rocha, the consortium embarks on a scientific odyssey to demystify the condition. Mired in academic controversies, entangled with the MARVEL entertainment use of the illness for their Spider-Man storyline, and burdened by the exigencies of clinical relevancy, Oshtoran Syndrome represents an uncharted territory in medical science. With rigorous academic frameworks and an overwhelming global response, the H63D Syndrome Research Consortium vows to undertake the monumental task ahead. Witness a journey through the labyrinth of rare diseases where politics, ethics, the entertainment industry and hard medical science converge, shaping the future of medical research.
Book Synopsis The real Oshtoran Syndrome by : Simon Nathan
Download or read book The real Oshtoran Syndrome written by Simon Nathan and published by BoD – Books on Demand. This book was released on 2023-10-12 with total page 30 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a whirlwind collision of medical science and pop culture, Oshtoran Syndrome uncovers a medical enigma that defies conventions. First unearthed by the Zafarian brothers in Iran and later propelled into the limelight by the Adams Group, this puzzling disorder finds its guardianship under the esteemed International H63D Mutation Syndrome Research Consortium. Spearheaded by Chairman Riku Honda and his unwavering Vice Chairman Dr. Rocha, the consortium embarks on a scientific odyssey to demystify the condition. Mired in academic controversies, entangled with the MARVEL entertainment use of the illness for their Spider-Man storyline, and burdened by the exigencies of clinical relevancy, Oshtoran Syndrome represents an uncharted territory in medical science. With rigorous academic frameworks and an overwhelming global response, the H63D Syndrome Research Consortium vows to undertake the monumental task ahead. Witness a journey through the labyrinth of rare diseases where politics, ethics, the entertainment industry and hard medical science converge, shaping the future of medical research.
Book Synopsis Iron Chelation Therapy by : Chaim Hershko
Download or read book Iron Chelation Therapy written by Chaim Hershko and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 275 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last few years, iron research has yielded exciting new insights into the under standing of normal iron homeostasis. However, normal iron physiology offers little protec tion from the toxic effects of pathological iron accumulation, because nature did not equip us with effective mechanisms of iron excretion. Excess iron may be effectively removed by phlebotomy in hereditary hemochromatosis, but this method cannot be applied to chronic anemias associated with iron overload. In these diseases, iron chelating therapy is the only method available for preventing early death caused mainly by myocardial and hepatic iron toxicity. Iron chelating therapy has changed the quality of life and life expectancy of thalassemic patients. However, the high cost and rigorous requirements of deferoxamine therapy, and the significant toxicity of deferiprone underline the need for the continued development of new and improved orally effective iron chelators. Such development, and the evolution of improved strategies of iron chelating therapy require better understanding of the pathophysiology of iron toxicity and the mechanism of action of iron chelating drugs. The timeliness of the present volume is underlined by several significant develop ments in recent years. New insights have been gained into the molecular basis of aberrant iron handling in hereditary disorders and the pathophysiology of iron overload (Chapters 1-5).
Download or read book Oslo Syndrome written by Adrian Tudor and published by BoD – Books on Demand. This book was released on 2022-05-23 with total page 35 pages. Available in PDF, EPUB and Kindle. Book excerpt: Evidence-based medicine has shown for many years that homozygous mutations of the HFE gene H63D are by no means negligible. Not only can it provoke, usually after a second hit, rather mild classical hemochromatosis, but it can also cause numerous other disorders of iron metabolism, such as Oslo-Syndrome. The latter is a severe disease which leads to multiple organ damages and is - for reasons that remain in the dark - not as known as Wilson's disease which is a very similar syndrome caused by copper.
Download or read book Point Mutation written by Colin Logie and published by BoD – Books on Demand. This book was released on 2012-03-21 with total page 356 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book concerns the signatures left behind in chromosomes by the forces that drive DNA code evolution in the form of DNA nucleotide substitutions. Since the genetic code predetermines the molecular basis of life, it could have been about any aspect of biology. As it happens, it is largely about recent adaptation of pathogens and their human host. Nine chapters are medically oriented, two are bioinformatics-oriented and one is technological, describing the state of the art in synthetic point mutagenesis. What stands out in this book is the increasing rate at which DNA data has been amassed in the course of the past decade and how knowledge in this vibrant research field is currently being translated in the medical world.
Book Synopsis Tietz Textbook of Laboratory Medicine - E-Book by : Nader Rifai
Download or read book Tietz Textbook of Laboratory Medicine - E-Book written by Nader Rifai and published by Elsevier Health Sciences. This book was released on 2022-02-03 with total page 4232 pages. Available in PDF, EPUB and Kindle. Book excerpt: Use THE definitive reference for laboratory medicine and clinical pathology! Tietz Textbook of Laboratory Medicine, 7th Edition provides the guidance necessary to select, perform, and evaluate the results of new and established laboratory tests. Comprehensive coverage includes the latest advances in topics such as clinical chemistry, genetic metabolic disorders, molecular diagnostics, hematology and coagulation, clinical microbiology, transfusion medicine, and clinical immunology. From a team of expert contributors led by Nader Rifai, this reference includes access to wide-ranging online resources on Expert Consult — featuring the comprehensive product with fully searchable text, regular content updates, animations, podcasts, over 1300 clinical case studies, lecture series, and more. Authoritative, current content helps you perform tests in a cost-effective, timely, and efficient manner; provides expertise in managing clinical laboratory needs; and shows how to be responsive to an ever-changing environment. Current guidelines help you select, perform, and evaluate the results of new and established laboratory tests. Expert, internationally recognized chapter authors present guidelines representing different practices and points of view. Analytical criteria focus on the medical usefulness of laboratory procedures. Use of standard and international units of measure makes this text appropriate for any user, anywhere in the world. Expert Consult provides the entire text as a fully searchable eBook, and includes regular content updates, animations, podcasts, more than 1300 clinical case studies, over 2500 multiple-choice questions, a lecture series, and more. NEW! 19 additional chapters highlight various specialties throughout laboratory medicine. NEW! Updated, peer-reviewed content provides the most current information possible. NEW! The largest-ever compilation of clinical cases in laboratory medicine is included on Expert Consult. NEW! Over 100 adaptive learning courses on Expert Consult offer the opportunity for personalized education.
Book Synopsis Pharmacology of Restless Legs Syndrome (RLS) by :
Download or read book Pharmacology of Restless Legs Syndrome (RLS) written by and published by Academic Press. This book was released on 2019-06-20 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pharmacology of Restless Legs Syndrome (RLS), Volume 84, the newest volume in the Advances in Pharmacology series, presents a variety of chapters from the best authors in the field on essential topics, with this volume presenting chapters on Targeting the adenosinergic system in Restless Legs Syndrome, Assessing iron uptake mechanisms in the brain: impact of gender and genotype, Pharmacological treatments of RLS in augmentation, C. elegans and its applicability to studies on RLS, The neurophysiology of hyperarousal in RLS: hints for a role of glutamate/GABA, Treatment management and options in RLS patients, Pharmacological responsiveness of Periodic Legs Movements during Sleep, and more. Includes the authority and expertise of leading contributors in pharmacology as sourced from an international board of authors Presents the latest release in the Advances in Pharmacology series
Book Synopsis Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics - E-Book by : Nader Rifai
Download or read book Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics - E-Book written by Nader Rifai and published by Elsevier Health Sciences. This book was released on 2023-09-02 with total page 1074 pages. Available in PDF, EPUB and Kindle. Book excerpt: Master clinical lab testing skills with the condensed version of the Tietz Textbook! Designed for use by CLS students, Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics, 9th Edition provides a streamlined guide to the clinical chemistry knowledge you need to work in a real-world, clinical lab. Coverage ranges from laboratory principles to analytical techniques and instrumentation, analytes, pathophysiology, and more. New content keeps you current with the latest developments in molecular diagnostics. From highly respected clinical chemistry educator Nader Rifai, this textbook shows how to select and perform diagnostic lab tests, and how to accurately evaluate results. Coverage of analytical techniques and instrumentation includes optical techniques, electrochemistry, electrophoresis, chromatography, mass spectrometry, enzymology, immunochemical techniques, microchips, automation, and point of care testing. Authoritative, foundational content mirrors that in the Tietz "bible" of laboratory medicine but in a more concise way. Updated chapters on molecular diagnostics cover the principles of molecular biology, nucleic acid techniques and applications, and genomes and nucleic acid alterations, reflecting the changes in this rapidly evolving field. Clinical cases from the Coakley Collection demonstrate how concepts from the text are applied in real-life scenarios. More than 400 illustrations and easy-to-read summary tables help you better understand and remember key concepts. Learning objectives, key words with definitions, and review questions are included in each chapter to make learning easier. NEW! Updated content throughout the text keeps you up to date on the latest techniques, instrumentation, and technologies. NEW! Additional questions are added to each chapter for subject reinforcement. NEW! Access to Adaptive Learning courses in clinical chemistry and molecular diagnostics is provided on the Evolve website.
Book Synopsis Liver Disease in Children by : Frederick J. Suchy
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
Book Synopsis Colorectal Cancer Biology by : Rajunor Ettarh
Download or read book Colorectal Cancer Biology written by Rajunor Ettarh and published by BoD – Books on Demand. This book was released on 2012-02-10 with total page 462 pages. Available in PDF, EPUB and Kindle. Book excerpt: Colorectal cancer is a common disease, affecting millions worldwide and represents a global health problem. Effective therapeutic solutions and control measures for the disease will come from the collective research efforts of clinicians and scientists worldwide. This book presents the current status of the strides being made to understand the fundamental scientific basis of colorectal cancer. It provides contributions from scientists, clinicians and investigators from 20 different countries. The four sections of this volume examine the evidence and data in relation to genes and various polymorphisms, tumor microenvironment and infections associated with colorectal cancer. An increasingly better appreciation of the complex inter-connected basic biology of colorectal cancer will translate into effective measures for management and treatment of the disease. Research scientists and investigators as well as clinicians searching for a good understanding of the disease will find this book useful.
Book Synopsis MacSween's Pathology of the Liver, E-Book by : Alastair D. Burt
Download or read book MacSween's Pathology of the Liver, E-Book written by Alastair D. Burt and published by Elsevier Health Sciences. This book was released on 2022-11-14 with total page 1139 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written and edited by an international team of renowned authorities, MacSween's Pathology of the Liver, 8th Edition, remains the field’s definitive reference on liver pathology. This must-have text is ideal for surgical pathologists in practice and in training who examine liver specimens on a day-to-day basis. It provides invaluable assistance in recognizing the huge variety of appearances of the liver that result from infections, tumors, and tumor-like lesions, as well as organ damage caused by drugs and toxins. With expert, comprehensive coverage of all malignant and benign hepatobiliary disorders, MacSween’s is a convenient, one-stop resource for use in the reporting room as well as in personal study. Shares the knowledge and experience of a “who’s who list of experts in the field of hepatobiliary pathology, led by editors Alastair D. Burt, Linda D. Ferrell, and Stefan G. Hübscher. Features more than 1,000 high-quality, full color illustrations, providing a complete visual guide to each tumor or tumor-like lesion. Discusses advances in molecular diagnostic testing, its capabilities, and its limitations, including targeted/personalized medicine. Incorporates the latest TNM staging and WHO classification systems, as well as new diagnostic biomarkers and their utility in differential diagnosis, newly described variants, and new histologic entities. Includes relevant data from ancillary techniques (immunohistochemistry, cytogenetics, and molecular genetics), giving you the necessary tools required to master the latest breakthroughs in diagnostic technology. Provides you with all of the necessary diagnostic tools to make a complete and accurate pathologic report, including clinicopathologic background throughout. Directs you to the most recent and authoritative sources for further reading with a comprehensive reference list that highlights key articles and up-to-date citations.
Book Synopsis Ferri's Clinical Advisor 2019 E-Book by : Fred F. Ferri
Download or read book Ferri's Clinical Advisor 2019 E-Book written by Fred F. Ferri and published by Elsevier Health Sciences. This book was released on 2018-05-26 with total page 7409 pages. Available in PDF, EPUB and Kindle. Book excerpt: Updated annually with the latest developments in diagnosis and treatment recommendations, Ferri’s Clinical Advisor uses the popular "5 books in 1" format to organize vast amounts of information in a clinically relevant, user-friendly manner. This efficient, intuitive format provides quick access to answers on more than 900 common medical conditions, including diseases and disorders, differential diagnoses, and laboratory tests – all updated by experts in key clinical fields. Updated algorithms and current clinical practice guidelines help you keep pace with the speed of modern medicine. Contains significant updates throughout, with more than 500 new figures, tables, and boxes added to this new edition. Features 17 all-new topics including opioid overdose, obesity-Hypoventilation syndrome, acute pelvic pain in women, new-onset seizures, and eosinophilic esophagitis, among many others. Provides current ICD-10 insurance billing codes to help expedite insurance reimbursements. Includes cross-references, outlines, bullets, tables, boxes, and algorithms to help you navigate a wealth of clinical information. Offers access to exclusive online content: more than 90 additional topics; new algorithms, images, and tables; EBM boxes; patient teaching guides, color images, and more.
Book Synopsis Iron Disorders, An Issue of Hematology/Oncology Clinics by : Matthew M. Heeney
Download or read book Iron Disorders, An Issue of Hematology/Oncology Clinics written by Matthew M. Heeney and published by Elsevier Health Sciences. This book was released on 2014-08-28 with total page 161 pages. Available in PDF, EPUB and Kindle. Book excerpt: This issue of Hematology/Oncology Clinics, guest edited by Drs. Matthew Heeney and Alan Cohen, is devoted to Iron Disorders. Articles in this issue include: Hereditary Hemochromatosis (HFE and Non-HFE); Iron Refractory Iron Deficiency Anemia (IRIDA); Sideroblastic Anemia; Anemia of Chronic Disease/Inflammation; Pathophysiology of Transfusional Iron Overload; Transfusional Iron Overload and Iron Chelation Therapy; Iron Overload and its Management in Non-Transfusion-Dependent Thalassemia; Treatment of Iron Deficiency Anemia; and Iron Overload Assessment.
Book Synopsis Genomic Essentials for Graduate Level Nurses by : Diane C. Seibert
Download or read book Genomic Essentials for Graduate Level Nurses written by Diane C. Seibert and published by DEStech Publications, Inc. This book was released on 2016-02-29 with total page 460 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents genetics and genomic essentials specifically for graduate-level nursesPrenatal care, cardiology, cancer and other disease systems covered in depth by chapter expertsKey chapter devoted to ethical and legal issues and to future technology Designed as both a nursing reference and course text, this book presents genetics and genomic essentials specifically for graduate-level nurses. Preliminary chapters cover the basics of genetics, risk assessment and genetic testing. With chapter contributions by topic experts, the remainder of the book is organized by disease system and covers genetics and genomics in prenatal care, neurology, cancer, respiratory function, cardiology, pharmacogenomics, hematology and others. Key chapters on ethical and legal issues and future technology are also included. This volume is well-suited for nursing faculty, nursing students, nurse leaders, and other nursing professionals with a need for further information on genetics and genomics in a nursing role and across a variety of specialties.
