Syndrome
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| Author | : Blake Leibel |
| Publisher | : Archaia |
| Total Pages | : 0 |
| Release | : 2010-09-07 |
| Genre | : Comics & Graphic Novels |
| ISBN | : 9781932386998 |
When a rogue neuropathologist makes a startling breakthrough — literally isolating the root of all evil in the recesses of the human brain — he'll stop at nothing to advance his theory. With the help of a naïve Hollywood actress, a tormented motion picture director, and a condemned serial killer, Dr. Wolfe Brunswick launches a bold experiment in the Nevada desert, the outcome of which could transform humanity forever. The Truman Show meets Se7en in Syndrome, an inventive, original graphic novel hardcover that serves as one of the first titles to be featured under Archaia’s new Black Label line, published in association with Fantasy Prone.
| Author | : Institute of Medicine |
| Publisher | : National Academies Press |
| Total Pages | : 251 |
| Release | : 2015-03-16 |
| Genre | : Medical |
| ISBN | : 0309316928 |
Myalgic encephalomyelitis (ME) and chronic fatigue syndrome (CFS) are serious, debilitating conditions that affect millions of people in the United States and around the world. ME/CFS can cause significant impairment and disability. Despite substantial efforts by researchers to better understand ME/CFS, there is no known cause or effective treatment. Diagnosing the disease remains a challenge, and patients often struggle with their illness for years before an identification is made. Some health care providers have been skeptical about the serious physiological - rather than psychological - nature of the illness. Once diagnosed, patients often complain of receiving hostility from their health care provider as well as being subjected to treatment strategies that exacerbate their symptoms. Beyond Myalgic Encephalomyelitis/Chronic Fatigue Syndrome proposes new diagnostic clinical criteria for ME/CFS and a new term for the illness - systemic exertion intolerance disease(SEID). According to this report, the term myalgic encephalomyelitis does not accurately describe this illness, and the term chronic fatigue syndrome can result in trivialization and stigmatization for patients afflicted with this illness. Beyond Myalgic Encephalomyelitis/Chronic Fatigue Syndrome stresses that SEID is a medical - not a psychiatric or psychological - illness. This report lists the major symptoms of SEID and recommends a diagnostic process.One of the report's most important conclusions is that a thorough history, physical examination, and targeted work-up are necessary and often sufficient for diagnosis. The new criteria will allow a large percentage of undiagnosed patients to receive an accurate diagnosis and appropriate care. Beyond Myalgic Encephalomyelitis/Chronic Fatigue Syndrome will be a valuable resource to promote the prompt diagnosis of patients with this complex, multisystem, and often devastating disorder; enhance public understanding; and provide a firm foundation for future improvements in diagnosis and treatment.
| Author | : Rob Willemsen |
| Publisher | : Academic Press |
| Total Pages | : 500 |
| Release | : 2017-05-26 |
| Genre | : Medical |
| ISBN | : 0128045078 |
Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as treatment options. The book discusses the detailed molecular information on each of the pathways involved with sufficient details for all whose research touches this pathway. It provides a state-of-the-art update on all clinical aspects associated with this syndrome, including phenotype, diagnostics and epidemiology. It also includes an overview of the lessons learned from the preclinical research and pioneering trials on the fragile X syndrome for the investigators involved in clinical trials of neurodevelopmental disorders. This book is written for academic researchers, pharmaceutical investigators, and clinicians in the field who work on the disorder, and for researchers involved in clinical trials of the fragile X syndrome or related disorders. "This fascinating book, edited by Rob Willemsen and Frank Kooy, summarizes the current knowledge of the molecular aspects of fragile X syndrome (FXS), andthe potential for therapies resulting from this knowledge...Particularly interesting is a review "fragile X research from a parental perspective, which summarizes the results of an international survey of the attitudes of families with FXS relatives towards research...This book is also an essential reference book for genetic counselors...The book provides counselors with the necessary biological background for proper explanations to the relatives of FXS patients. Many parents acquire a substantial knowledge of the conditions afflicting their children. The book will be helpful for both families and counselors to manage the expectations of families participating in clinical trials...In conclusion, this book is essential for everyone who is involved in the diagnosis and treatment of FXS patients. - European Journal of Human Genetics (September 2018) - Provides a comprehensive overview of the molecular genetics, clinical trials, and treatment of Fragile X Syndrome - Written for academic researchers, pharmaceutical investigators, and clinicians in the field - Edited by international leaders in the field who have contributed greatly to the study of Fragile X Syndrome - Directs the reader through complex issues surrounding FXS and draws the literature together for researchers and clinicians
| Author | : Cyril Mauffrey |
| Publisher | : Springer Nature |
| Total Pages | : 187 |
| Release | : 2019-09-02 |
| Genre | : Medical |
| ISBN | : 3030223310 |
Compartment syndrome is a complex physiologic process with significant potential harm, and though an important clinical problem, the basic science and research surrounding this entity remains poorly understood. This unique open access book fills the gap in the knowledge of compartment syndrome, re-evaluating the current state of the art on this condition. The current clinical diagnostic criteria are presented, as well as the multiple dilemmas facing the surgeon. Pathophysiology, ischemic thresholds and pressure management techniques and limitations are discussed in detail. The main surgical management strategy, fasciotomy, is then described for both the upper and lower extremities, along with wound care. Compartment syndrome due to patient positioning, in children and polytrauma patients, and unusual presentations are likewise covered. Novel diagnosis and prevention strategies, as well as common misconceptions and legal ramifications stemming from compartment syndrome, round out the presentation. Unique and timely, Compartment Syndrome: A Guide to Diagnosis and Management will be indispensable for orthopedic and trauma surgeons confronted with this common yet challenging medical condition.
| Author | : Nima Rezaei |
| Publisher | : |
| Total Pages | : 8970 |
| Release | : 2019 |
| Genre | : Genetic disorders |
| ISBN | : 9783319668161 |
This comprehensive reference work covers the full range of congenital syndromes. The first section uses a general approach discussing broad topics such as worldwide prevalence and possible etiologies of congenital syndromes including genetics, epigenetics and environmental factors. As well as the most common inheritance patterns of congenital syndromes. The next part of the work is organised in sections based on system specified classification of congenital syndromes. The main characteristics of each syndrome are summarized, including background and history, other name, etiology (genetics, epigenetics, and environment), clinical presentation, diagnosis, treatment, follow-up and prognosis, and differential diagnosis. Covering all known congenital syndromes and defining their characteristics, this book is the ultimate reference for clinicians, researchers, and students primary in the fields of genetics and pediatrics but also in other fields as it covers the syndromes of all systems. This book is particularly useful for clinicians in diagnostic and therapeutic approaches to patients. With its apposite and easy-to-use classification this reference work offers straight-forward access to each syndrome. .
| Author | : P A T R I C I A GILBERT |
| Publisher | : Springer |
| Total Pages | : 389 |
| Release | : 2013-12-17 |
| Genre | : Medical |
| ISBN | : 1489969187 |
The A-Z Reference Book of Syndromes and Inherited Disorders provides a practical reference for carers and those with a syndrome or inherited disorder. It describes the disorders and problems of both children and adults, considers the day-to-day management of conditions and is written in non-technical language for a wider audience whilst giving enough detail for the medical, nursing and midwifery professions. The text is well indexed and has an extensive glossary. Whilst new methods of diagnosis, investigation and treatment will, of course. occur over the next few years, the basics described in this book will still apply. Social workers, nursery nurses and educationalists will find this reference source invaluable as a basis for assessing needs and potential in their students and clients.
| Author | : Randy Q. Cron |
| Publisher | : Springer Nature |
| Total Pages | : 607 |
| Release | : 2019-09-09 |
| Genre | : Medical |
| ISBN | : 303022094X |
Cytokine Storm Syndromes, including HLH and MAS, are frequently fatal disorders, particularly if not recognized early and treated during presentation. The genetics of Cytokine Storm Syndromes are being defined with many of the risk alleles giving rise to mutations in the perforin-mediated cytolytic pathway used by CD8 cytotoxic T cells and natural killer cells. These are being studied using murine models. Up to 10% of the general population may carry risk alleles for developing Cytokine Storm Syndromes, and Cytokine Storm Syndromes are being increasingly recognized around the world in pediatric and adult hospitals. A variety of infectious, rheumatic, and oncologic triggers are commonly associated with Cytokine Storm Syndromes, but understanding this disorder is critical for all researchers and physicians to ensure timely and appropriate therapy. This textbook, the first of its kind, addresses all aspects of the disorder – from genetics, pathophysiology, and ongoing research, to clinical presentations, risk factors, and treatment.
| Author | : Patricia Y. Fechner |
| Publisher | : Springer Nature |
| Total Pages | : 280 |
| Release | : 2020-03-20 |
| Genre | : Medical |
| ISBN | : 303034150X |
Comprehensive and practical, this is a unique and multidisciplinary resource for the clinician caring for the girl or woman with Turner syndrome. Although approximately one in 2000 women are affected, many have not been diagnosed; as the advent of prenatal genetic testing becomes more prevalent, the diagnosis of Turner syndrome will be made much more frequently. There is therefore a greater need for this single source that provides the clinician with the information required to care for this multifaceted disorder. The opening chapters discuss the biology, genetics and current standard of care for females with Turner syndrome in order to provide proper background and context for the remaining chapters. The main section of the book, taking a body system approach, is comprised of chapters written by an expert in his or her subspecialty and will discuss pathophysiology and diagnosis, as well as therapeutic options. Reproductive, cardiac, renal, endocrine, neurologic, musculoskeletal, and sensory issues and symptoms associated with Turner syndrome are all covered in detail. Additional chapters describe current resources available to both caregiver and patient as well as future directions for research and management. Currently, there are no similar books on the market that take an all-inclusive, multidisciplinary approach in the care of individuals with Turner syndrome. As such, this book should be the standard of care for management of this challenging and multifaceted condition.
| Author | : J. Gordon Millichap |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 281 |
| Release | : 2013-08-04 |
| Genre | : Medical |
| ISBN | : 1461477867 |
Neurological Syndromes: A Clinical Guide to Symptoms and Diagnosis offers a concise, invaluable resource for understanding how a group of neurologic symptoms or signs collectively characterize a disease or disorder. Intended as a quick reference guide to the better known and some less familiar syndromes of neurological interest and developed by a renowned pediatric neurologist with more than 40 years experience in treating children, adolescents, and young adults, this handy title provides a definition of each syndrome that includes diagnostic characteristics and abnormalities, a differential diagnosis, genetic considerations, and a short list of references. To those readers who can recall the name of a syndrome, the alphabetical presentation should facilitate a review of the major diagnostic characteristics. The original reference is provided for historical interest, and review articles are included to show recent advances in etiology and treatment. The index is arranged in alphabetical order of the named syndromes and also according to the involvement of various organs in addition to the nervous system. A unique contribution to the literature, Neurological Syndromes: A Clinical Guide to Symptoms and Diagnosis will be of great interest to the wide variety of clinicians treating patients with neurologic disease.
| Author | : Suzanne B. Cassidy |
| Publisher | : John Wiley & Sons |
| Total Pages | : 1678 |
| Release | : 2011-09-20 |
| Genre | : Medical |
| ISBN | : 1118210670 |
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
