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Spinal Muscular Atrophy
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 dev...
Neurodegeneration
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
Genetic Neuromuscular Disorders
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.
It's One of Them!
Grace Saunders and her brother Ben were both born with the genetic disorder spinal muscular atrophy type 2/3, SMA. From her happy childhood growing up in Hertfordshire, enduring painful operations, to becoming a mom and a wife living an independent life in Coventry. Her extraordinary story of strength, not only coping with a severe physical disability, but being victim to domestic violence. Graces story also involves drugs, murder, the police investigation that was Operation Ore and the death of her brother, aged thirty. This is a womans struggle for a normal life, independence, and remarkably, having a healthy baby girl when she was told she would never be able to have children. She coped many years, being a single mother with the help of her family and personal care assistants. She writes about her education, care, and funny stories about the world of Internet dating. She tells her story with, honesty, humor, and heartfelt emotion, Grace shares the highs and lows she has faced and has come out the other side, although a little bruised, stronger than ever, and still smiling. Graces attitude to the life she has been dealt with is, as she says, Its One of Them!
Cassidy and Allanson's Management of Genetic Syndromes
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 routin...
Consults in Obstetric Anesthesiology
This text addresses the need for a book specifically aimed at obstetric anesthesia and covers topics such as pulmonary, cardiac renal, hepatic, hematologic, neurologic, endocrine and other diseases. The real anesthetic challenge arises when patients present to Labor and Delivery with unusual or complicated medical problems and, in recent years, a few of the larger institutions have developed an Obstetric Anesthesiology Consultation Service to prepare for the management of these patients. While most pregnant women who present to Labor and Delivery require anesthetic intervention, they typically meet the anesthesiologist for the first time in labor. Since the majority of laboring women are healthy without significant comorbidities, this does not present much of a challenge to the anesthesiologist and the anesthetic management tends to be straight-forward with favorable outcomes. However, using this new model, the anesthesiologist has the opportunity to discuss the various treatment modalities and potentially suggest diagnostic testing to be performed prior to delivery, similar to the pre-operative testing that is done in other surgical environments.
The Pediatric and Adolescent Hip
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 complica...
The Growing Spine
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.
