Download or read book Spinal Muscular Atrophy written by Charlotte J Sumner and published by Academic Press. This book was released on 2016-10-24 with total page 506 pages. Available in PDF, EPUB and Kindle. Book excerpt: Spinal Muscular Atrophy: Disease Mechanisms and Therapy provides the latest information on a condition that is characterized by motoneuron loss and muscle atrophy, and is the leading genetic cause of infant mortality. Since the identification of the gene responsible for SMA in 1995, there have been important advances in the basic understanding of disease mechanisms, and in therapeutic development. This book provides a comprehensive accounting of recent advances in basic and clinical research that covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal models, and biomarkers, as well as current therapeutic development. This title is ideal for graduate students/postdocs and principal investigators who are already in the SMA field and need to keep updated on recent findings and approaches, and for those who are new to, or would like to join, the field. Likewise, users will find an excellent source of reading for biotech/pharma scientists, clinical researchers, and practitioners, regulators, and patients and their advocacy organizations. Furthermore, this book is a handy reference for researchers and clinicians who may want to apply the research strategies and therapeutic approaches in SMA to other rare diseases. Provides comprehensive, up-to-date reviews by leading investigators on diverse topics of SMA, including clinical features and patient care, SMN genetics and protein functions, animal models, disease pathology and mechanisms, biomarkers, current therapeutic development, and the role of non-profit organizations in therapeutic development Written to bridge multiple disciplines and promote better communications among basic scientists, clinical researchers, and health care providers on the latest developments in SMA Includes outstanding questions and perspectives for future investigations and key references for additional detailed study
Download or read book Neurodegeneration written by Anthony Schapira and published by John Wiley & Sons. This book was released on 2017-04-24 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book unites the diverse range of complex neurodegenerative diseases into a textbook designed for clinical practice, edited by globally leading authorities on the subject. Presents a clinically oriented guide to the diseases caused by neurodegeneration Templated chapters combine clinical and research information on neurodegenerative diseases beginning with the common elements before treating each disease individually Diseases are grouped by anatomical regions of degeneration and include common disorders such as Parkinson’s Disease, Alzheimer’s Disease, Amyotrophic Lateral Sclerosis/Motor Neuron Disease, and Multiple Sclerosis as well as less common diseases Edited by globally leading authorities on the subject, and written by expert contributing authors
Download or read book Progressive Spinal Muscular Atrophies written by Ingrid Gamstorp and published by Lippincott Williams & Wilkins. This book was released on 1984 with total page 264 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Cassidy and Allanson s Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Download or read book Genetic Neuromuscular Disorders written by Corrado Angelini and published by Springer. This book was released on 2017-10-05 with total page 433 pages. Available in PDF, EPUB and Kindle. Book excerpt: This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
Download or read book Neurodegenerative Diseases written by Uday Kishore and published by BoD – Books on Demand. This book was released on 2013-05-15 with total page 642 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book highlights the pathophysiological complexities of the mechanisms and factors that are likely to be involved in a range of neuroinflammatory and neurodegenerative diseases including Alzheimer's disease, other Dementia, Parkinson Diseases and Multiple Sclerosis. The spectrum of diverse factors involved in neurodegeneration, such as protein aggregation, oxidative stress, caspases and secretase, regulators, cholesterol, zinc, microglia, astrocytes, oligodendrocytes, etc, have been discussed in the context of disease progression. In addition, novel approaches to therapeutic interventions have also been presented. It is hoped that students, scientists and clinicians shall find this very informative book immensely useful and thought-provoking.
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Download or read book The Growing Spine written by Behrooz A. Akbarnia and published by Springer Science & Business Media. This book was released on 2010-12-31 with total page 624 pages. Available in PDF, EPUB and Kindle. Book excerpt: Spinal disorders in very young children may be caused by a variety of conditions. The treatment of such conditions is often challenging due to the age of the patient and the progressive nature of the deformity. There also may be associated problems such as congenital anomalies, respiratory insufficiency, and neurological problems. Depending on the etiology of the deformity, these children are often cared for by multiple specialists including pediatricians, pediatric orthopaedists or orthopaedic spine surgeons, neurologists, pediatric surgeons, pediatric neurosurgeons, oncologists, and/or pulmonologists. Health professionals in all of the mentioned disciplines are involved in the management of these patients, which is why compiling a comprehensive textbook that is not limited to orthopedic specialists is essential. This textbook will effectively help to standardize the care of these patients. Furthermore, other professionals such as nurses, physical therapists and healthcare professionals in training are usually not familiar with these conditions and are in need of a reference book to consult when caring for children with spinal deformities.
Download or read book Searching For Every Step Finding Purpose in Living With Spinal Muscular Atrophy written by Kurt E. Beach and published by Beach Publishing LLC. This book was released on 2021-10-15 with total page 208 pages. Available in PDF, EPUB and Kindle. Book excerpt: This inspiring memoir tells the story of a young man who is diagnosed with spinal muscular atrophy-a rare muscular disease-at a young age. In Searching for Every Step, author Kurt Beach offers his insight on the steps he took to find his true purpose in life. In his memoir, Beach recalls the steps and missteps he took in order to manage his bout with SMA and how this rare condition played a part in many decisions he made throughout his life. Despite his rare circumstances, his struggles are struggles we all face. Through his condition, he finds the courage and strength to overcome physical, emotional, and social obstacles concerning his career aspirations, schooling, romantic relationships, and even adoption. During a life changing event, Beach finds what he is missing in life. This experience not only shows him what kind of strength he has but what his true purpose in life is. Searching for Every Step delivers wisdom and inspiration to anyone who has struggled through life and gives them the inspiration to shift their focus away from their troubles and toward a more positive, faith-driven life
Download or read book The Pediatric and Adolescent Hip written by Sattar Alshryda and published by Springer. This book was released on 2019-06-28 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an evidence-based approach to treating the increasing number of children and adolescents presenting with hip disorders. It integrates the most up-to-date data with essential knowledge, gleaned from decades of previous research and practice. Each chapter provides a comprehensive text which integrates relevant pathophysiology, clinical assessment, and imaging, with an evidence-based approach to non-operative and operative management, authored by globally recognized experts in the field of pediatric hip surgery. Detailed surgical techniques, illustrated with original medical drawings and accompanied by their respective indications, anticipated outcomes, and potential complications, are also featured, in this first orthopedic text dedicated solely to the pediatric and adolescent hip. The Paediatric and Adolescent Hip: Essentials and Evidence will be an indispensable resource for wide spectrum of audience including paediatric orthopaedic surgeons, general practitioners, general orthopaedic surgeons, trauma surgeons, orthopaedic residents, emergency department doctors, and physiotherapists seeking a clear and consistent evidence-based guide to treating the paediatric hip.
Download or read book Living with Spinal Muscular Atrophy written by Trina Allen and published by . This book was released on 2006-09 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "November 3, 2003-April 27, 2004. Our love, our life, our angel. A day by day journey with SMA. Learn about SMA. See how life can change overnight. Feel the courage and strength. And much more"--Subtitles
Download or read book Not So Different written by Shane Burcaw and published by Roaring Brook Press. This book was released on 2017-11-07 with total page 40 pages. Available in PDF, EPUB and Kindle. Book excerpt: Not So Different offers a humorous, relatable, and refreshingly honest glimpse into Shane Burcaw’s life. Shane tackles many of the mundane and quirky questions that he’s often asked about living with a disability, and shows readers that he’s just as approachable, friendly, and funny as anyone else. Shane Burcaw was born with a rare disease called spinal muscular atrophy, which hinders his muscles’ growth. As a result, his body hasn’t grown bigger and stronger as he’s gotten older—it’s gotten smaller and weaker instead. This hasn’t stopped him from doing the things he enjoys (like eating pizza and playing sports and video games) with the people he loves, but it does mean that he routinely relies on his friends and family for help with everything from brushing his teeth to rolling over in bed. A Chicago Public Library Best Book of 2017
Download or read book Miracle Boy Grows Up written by Ben Mattlin and published by Skyhorse Publishing Inc.. This book was released on 2012-08-14 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: Describes how the author, an NPR commentator and professional writer who was born with spinal muscular atrophy, was expected to die in childhood but who with the support of a growing disability rights movement became one of the first students in a wheelchair to attend Harvard.
Download or read book Muscle Disorders in Childhood written by Victor Dubowitz and published by Bailliere Tindall Limited. This book was released on 1995 with total page 552 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference focuses on the clinical assessment, diagnosis, management, and prognosis of all forms of muscle diseases that affect children. Includes a readable account of relevant genetics, biochemistry, and molecular biology, in addition to numerous case histories.
Download or read book Laughing at My Nightmare written by Shane Burcaw and published by Macmillan. This book was released on 2014-10-14 with total page 257 pages. Available in PDF, EPUB and Kindle. Book excerpt: "With acerbic wit & a hilarious voice, Shane Burcaw's YA memoir describes the challenges he faces as a 20-year-old with muscular atrophy. From awkward handshakes to trying to finding a girlfriend and everything in between"--
Download or read book Neuromuscular Disorders in Clinical Practice written by Bashar Katirji and published by Springer Science & Business Media. This book was released on 2013-10-11 with total page 1565 pages. Available in PDF, EPUB and Kindle. Book excerpt: Comprehensive, thoroughly updated, and expanded, Neuromuscular Disorders in Clinical Practice, Second Edition encompasses all disorders of the peripheral nervous system, covering all aspects of neuromuscular diseases from diagnosis to treatment. Mirroring the first book, this two-volume edition is divided into two parts. Part one discusses the approach to neuromuscular disorders, covering principles and basics, neuromuscular investigations, and assessment and treatment of neurological disorders. Part two then addresses the complete range of specific neuromuscular diseases: neuronopathies, peripheral neuropathies, neuromuscular junction disorders, muscle ion channel disorders, myopathies, and miscellaneous neuromuscular disorders and syndromes. Neuromuscular Disorders in Clinical Practice, Second Edition is intended to serve as a comprehensive text for both novice and experienced practitioners. General neurologists as well as specialists in neuromuscular medicine and trainees in neuromuscular medicine, clinical neurophysiology and electromyography should find this book inclusive, comprehensive, practical and highly clinically focused. Additionally, specialists in physical medicine and rehabilitation, rheumatology, neurosurgery, and orthopedics will find the book of great value in their practice.
Download or read book Exon Skipping and Inclusion Therapies written by Toshifumi Yokota and published by Humana Press. This book was released on 2018-09-01 with total page 569 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents a comprehensive collection of detailed state-of-the-art exon skipping and splices modulation protocols. Chapters detail 14 genetic diseases, AON-mediated therapies, and CRISPR/Cas9-mediated gene editing therapies. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Exon Skipping and Inclusion Therapies: Methods and Protocols aims to help researchers initiate the development of next-generation therapies.
