Syndrome

Syndrome PDF Author: Blake Leibel
Publisher: Archaia
ISBN: 9781932386998
Category : Comics & Graphic Novels
Languages : en
Pages : 0

Book Description
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

Down Syndrome: From Understanding the Neurobiology to Therapy PDF Author:
Publisher: Elsevier
ISBN: 0444543007
Category : Medical
Languages : en
Pages : 273

Book Description
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

Genetic Syndromes

Genetic Syndromes PDF Author: Nima Rezaei
Publisher:
ISBN: 9783319668161
Category : Genetic disorders
Languages : en
Pages : 8970

Book Description
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. .

Fragile X Syndrome

Fragile X Syndrome PDF Author: Rob Willemsen
Publisher: Academic Press
ISBN: 0128045078
Category : Science
Languages : en
Pages : 498

Book Description
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

Management of Genetic Syndromes

Management of Genetic Syndromes PDF Author: Suzanne B. Cassidy
Publisher: John Wiley & Sons
ISBN: 1118210670
Category : Medical
Languages : en
Pages : 1678

Book Description
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

Compartment Syndrome PDF Author: Cyril Mauffrey
Publisher: Springer Nature
ISBN: 3030223310
Category : Medical
Languages : en
Pages : 187

Book Description
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.

Excited Delirium Syndrome

Excited Delirium Syndrome PDF Author: Theresa G. DiMaio
Publisher: CRC Press
ISBN: 0203483472
Category : Law
Languages : en
Pages : 162

Book Description
During a routine investigation, a suspect turns hostile. The officers on the scene spring into action and get the suspect under control by handcuffing him. Though the suspect has been successfully subdued he dies shortly thereafter A psychiatric patient suddenly becomes violent. The hospital staff struggles to control the patient

Prader-Willi Syndrome

Prader-Willi Syndrome PDF Author: John Hernandez-Storr
Publisher:
ISBN: 9780997178302
Category :
Languages : en
Pages :

Book Description
On March 28, 1971, Fausta Deterling gave birth to a boy. Curtis was floppy and had little appetite. When he was five months old, a doctor told his parents that Curtis had something called Prader-Willi syndrome. He told them Curtis would develop a huge appetite as a toddler, would become quite obese, would not be 100 percent mentally, and would not live past his twenties. There was no cure or treatment, the doctor said. Fausta and her husband, Gene, did not accept this. They banded with other parents, and with a handful of professionals, to try to make better lives for their children.The small number of professionals interested in Prader-Willi syndrome made some gains, although the syndrome remained obscure. But in the 1980s Prader-Willi syndrome became the focus of a worldwide genetic mystery. And the resolution of that mystery would change the textbooks.

Turner Syndrome

Turner Syndrome PDF Author: Patricia Y. Fechner
Publisher: Springer Nature
ISBN: 303034150X
Category : Medical
Languages : en
Pages : 280

Book Description
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.

Wind Turbine Syndrome

Wind Turbine Syndrome PDF Author: Simon Chapman and Fiona Crichton
Publisher: Sydney University Press
ISBN: 1743324960
Category : Political Science
Languages : en
Pages : 365

Book Description
In Wind Turbine Syndrome: A Communicated Disease, Simon Chapman and Fiona Crichton explore the claims and tactics of the anti-windfarm movement, examine the scientific evidence, and consider how best to respond to anti-windfarm arguments. This is an eye-opening account of the rise of the anti-windfarm movement, and a timely call for a more evidence-based approach.