Syndrome Book in PDF, ePub and Kindle version is available to download in english. Read online anytime anywhere directly from your device. Click on the download button below to get a free pdf file of Syndrome book. This book definitely worth reading, it is an incredibly well-written.
Syndrome by Blake Leibel,R.J. Ryan,Daniel Quantz Pdf
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.
Down Syndrome: From Understanding the Neurobiology to Therapy by Anonim Pdf
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
Author : J. Gordon Millichap Publisher : Springer Science & Business Media Page : 281 pages File Size : 54,9 Mb Release : 2013-08-04 Category : Medical ISBN : 9781461477860
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.
Management of Genetic Syndromes by Suzanne B. Cassidy,Judith E. Allanson Pdf
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
Compartment Syndrome by Cyril Mauffrey,David J. Hak,Murphy P. Martin III Pdf
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.
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.
Cytokine Storm Syndrome by Randy Q. Cron,Edward M. Behrens Pdf
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.
Management of Prader-Willi Syndrome by Merlin Butler,Phillip D.K. Lee,Barbara Y. Whitman Pdf
Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.
The Wellness Syndrome by Carl Cederström,Andre Spicer Pdf
Not exercising as much as you should? Counting your caloriesin your sleep? Feeling ashamed for not being happier? You may be avictim of the wellness syndrome. In this ground-breaking new book, Carl Cederström andAndré Spicer argue that the ever-present pressure to maximizeour wellness has started to work against us, making us feel worseand provoking us to withdraw into ourselves. The Wellness Syndromefollows health freaks who go to extremes to find the perfect diet,corporate athletes who start the day with a dance party, and theself-trackers who monitor everything, including their own toilethabits. This is a world where feeling good has becomeindistinguishable from being good. Visions of social change havebeen reduced to dreams of individual transformation, politicaldebate has been replaced by insipid moralising, and scientificevidence has been traded for new-age delusions. A lively andhumorous diagnosis of the cult of wellness, this book is anindispensable guide for everyone suspicious of our relentless questto be happier and healthier.
Author : P A T R I C I A GILBERT Publisher : Springer Page : 389 pages File Size : 44,5 Mb Release : 2013-12-17 Category : Medical ISBN : 9781489969187
The A-Z Reference Book of Syndromes and Inherited Disorders by P A T R I C I A GILBERT Pdf
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.
Stiff-Person Syndrome and Related Disorders by Pichet Termsarasab,Thananan Thammongkolchai,Bashar Katirji Pdf
This comprehensive title covers all of the broad aspects of stiff-person spectrum disorders (SPSD), ranging from clinical features and laboratory investigations to the basic scientific roles of neuroimmunology and genetics that aid clinicians in understanding the pathogenesis of this disorder. Organized across 15 chapters, this highly practical book begins with a thorough account of the history and clinical phenomenology of SPSD. Subsequent chapters then delve into the differential diagnoses of the disorder, as well as its electrophysiology, immunopathogenesis, and neurochemistry. Following this is an analysis of each subtype of SPSD including classic stiff-person syndrome and its variants, correlations between clinical phenotypes and antibodies, as well as SPSD in the pediatric population. Finally, the book concludes with an examination of the various SPSD diagnostic approaches, treatments, and potential emergencies seen in clinical practice. Developed by a renowned multidisciplinary authorship, Stiff-Person Syndrome and Related Disorders is an indispensable contribution to the clinical literature and will be of great interest to both clinicians and basic science researchers.
Behçet Syndrome by Yusuf Yazici,Gulen Hatemi,Emire Seyahi,Hasan Yazici Pdf
The expanded second edition of this important work provides an up-to-date and comprehensive overview of Behçet syndrome. New and updated chapters focus on recent advances in the areas of pathogenesis, the microbiome, genetics and epigenetics, clustering of symptoms, disease assessment and new treatment options. The book examines how these developments have changed the way physicians approach diagnosis, treatment, and management of Behçet patients. It also analyzes the wide variety of clinical manifestations of the disease including mucocutaneous lesions, intraocular inflammation, central nervous system involvement, deep vein thrombosis and other forms of major vascular disease. Building on the success of its predecessor, the Second Edition of Behçet Syndrome is an invaluable resource for physicians, residents, fellows, and graduate students in rheumatology, dermatology, ophthalmology, neurology, gastroenterology, and internal medicine.
Syndrome-based Approach to Diagnosis by Efim Benenson Pdf
Many young, inexperienced doctors, have difficultly pinpointing a diagnosis: Is it a condition to which certain diseases could belong, or a disease definable in line with certain criteria? How can I apply my basic knowledge of diseases to a real patient? How can I find the correct diagnosis for a disease that I am seeing for the very first time? The traditional diagnostic pathways conveyed by current methods of teaching, from visual identification of the disease, knowledge of diseases, understanding of symptoms or patterns to diagnosis, leave certain diagnostic questions unanswered, especially on first experience of such a clinical pattern. Syndrome-based Approach to Diagnosis: A Practical Guide offers lecturers an alternative training concept in their teaching, which provides students with a model for self-study as well as the educational tools for learning how to think in clinical terms.
Fragile X Syndrome by Rob Willemsen,Frank Kooy Pdf
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. 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
CHARGE Syndrome, Second Edition by Timothy S. Hartshorne,Margaret A. Hefner,Kim D. Blake Pdf
It was first described in 1979, named in 1981, and in 2004 a gene for CHARGE was identified. In addition to a host of other conditions, most individuals have communication-related problems, including hearing, vision, balance, breathing, swallowing, and speech. Each of the editors is an established expert on CHARGE syndrome and has received the highest award bestowed by the CHARGE Syndrome Foundation, the Stars in CHARGE. They represent three different disciplines: psychology, genetic counseling, and clinical pediatrics. Additional information and studies on CHARGE have advanced to the degree that warrant a second edition of this book. As in the first edition, this book describes the sensory, physical, communicative, and behavioral findings in CHARGE. Authors include experts in the field, including a number from the CHARGE Center at Cincinnati Children’s Hospital Medical Center. New to the Second Edition: * Co-Editor, Kim D. Blake, MD * A chapter on Educational Issues has been added * Reorganized for a greater flow of information * All chapters have been revised and updated * References have been completely updated * More images and illustrations * Includes related videos Disclaimer: Please note that ancillary content (such as documents, audio, and video, etc.) may not be included as published in the original print version of this book.