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 The Floppy Infant written by Victor Dubowitz and published by Cambridge University Press. This book was released on 1980 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of The Floppy Infant is devoted to the recognition and diagnosis of the floppy infant syndrome. It includes a review of some of the more important causes and provides a practical approach to the assessment and management such children require. The text of the first edition has been completely revised, but the emphasis has not changed: it remains an immensely practical and up-to-date handbook for the clinician.
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
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 508 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 2017-02-13 with total page 1078 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 Ethics Conflict and Medical Treatment for Children E Book written by Dominic Wilkinson and published by Elsevier Health Sciences. This book was released on 2018-08-05 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: What should happen when doctors and parents disagree about what would be best for a child? When should courts become involved? Should life support be stopped against parents' wishes? The case of Charlie Gard, reached global attention in 2017. It led to widespread debate about the ethics of disagreements between doctors and parents, about the place of the law in such disputes, and about the variation in approach between different parts of the world. In this book, medical ethicists Dominic Wilkinson and Julian Savulescu critically examine the ethical questions at the heart of disputes about medical treatment for children. They use the Gard case as a springboard to a wider discussion about the rights of parents, the harms of treatment, and the vital issue of limited resources. They discuss other prominent UK and international cases of disagreement and conflict. From opposite sides of the debate Wilkinson and Savulescu provocatively outline the strongest arguments in favour of and against treatment. They analyse some of the distinctive and challenging features of treatment disputes in the 21st century and argue that disagreement about controversial ethical questions is both inevitable and desirable. They outline a series of lessons from the Gard case and propose a radical new 'dissensus' framework for future cases of disagreement. - This new book critically examines the core ethical questions at the heart of disputes about medical treatment for children. - The contents review prominent cases of disagreement from the UK and internationally and analyse some of the distinctive and challenging features around treatment disputes in the 21st century. - The book proposes a radical new framework for future cases of disagreement around the care of gravely ill people.
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 Neurological Assessment of the Preterm and Full term Newborn Infant written by Lilly M. S. Dubowitz and published by Cambridge University Press. This book was released on 1999-01-26 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the second edition of the manual describing this popular and practical tool for the clinical neurological examination of the newborn. In addition to a number of developments on the original scheme in the light of clinical and research experience, the new manual also facilitates the recording and performance of the examination by providing clear information on its administration aided by illustrative diagrams. New sections include a simplified version of the examination suited to inexperienced staff, applicable both for screening and for use in developing countries; a revised proforma that may be used for the follow-up of infants beyond the neonatal period; and a new section describing clinical patterns in newborns with brain lesions and their correlation with imaging and neurological findings. Scoring tables are included in the back of the book.
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 Essentials of Anesthesia for Infants and Neonates written by Mary Ellen McCann and published by Cambridge University Press. This book was released on 2018-02-22 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: A practical, comprehensive guide to the special needs of infants and neonates undergoing anesthesia.
Download or read book Developmental Neuropathology written by Reinhard L. Friede and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 591 pages. Available in PDF, EPUB and Kindle. Book excerpt: I was gratified by the most favorable reception and wide usage received by the first edition of this book. A decade seems to be a short period for a book on pathology, and yet it witnessed many important changes of concepts, along with a formidable growth of knowledge. The second edition required extensive reorganization. There are new chapters on mitochondriopathies, on peroxisomal diseases and on spongy myelino pathies. Major revisions and new additions were necessary in many chapters, for instance those on the dysplasias of the cerebral and of the cerebellar hemispheres, which were largely reorganized. The chapters on perinatal pathology were reordered and reorganized to give a more logical sequence of prenatal, perinatal and postnatal lesions. The entire text was worked over for brevity. A wealth of new references was added with the. aim of staying abreast with the literature up to summer 1988. All refer ences were double checked for errors. My gratitude goes to Mrs. Gisela Ropte and Mrs. Cynthia Bunker for their untiring, diligent help. As a result, this second edition is an essentially rewritten text. Advance in the prevention of human suffering is based on a thorough understand ing of the nature of disease. I hope that this text will continue to be of service in this behalf. Perhaps it may also reflect and foster the intellectual curiosity which makes the "reading of brains" so interesting an occupation. Gottingen, 1989 Reinhard L.
Download or read book Early Onset Scoliosis written by Colin Nnadi and published by Thieme. This book was released on 2015-08-05 with total page 726 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive guide to modern treatment in a complex and evolving specialty FIVE STARS from Doody's Star Ratings™ Covering the spectrum of spinal deformity that occurs between birth and 10 years, early onset scoliosis (EOS) is an evolving specialty that faces unique challenges, especially in controlling the progression of the condition while allowing the growth of the developing spine, lungs and thorax. This important book was inspired by the inaugural early onset scoliosis meeting of spine surgeons and other medical professionals in Christ Church, Oxford, UK, in September 2011. It provides a complete picture of the field today, with topics ranging from spinal development and genetics to advances in medical management to breakthrough surgical techniques that offer promising new options for young patients. Special Features Provides practical, evidence-based solutions to managing the full range of congenital, idiopathic, neuromuscular and syndromic conditions that present in early onset scoliosis Describes pioneering surgical procedures, such as non-invasive, magnetically controlled growing rod systems that reduce the number of repetitive surgeries and hospitalizations Explores such complex topics as surgical strategies for sitting comfort and features of optimal heelchair seating Details treatments and outcome measures in diverse, multi-system disorders, such as early onset neuromuscular scoliosis Highlights perioperative care and the vital role of physiotherapy in children with EOS Introduces an EOS questionnaire that establishes validated, patient-reported data for outcome assessment Recognizing the importance of the multidisciplinary team approach in effective management, Early Onset Scoliosis offers the valuable international perspective of many leaders in the field. It is essential for orthopedic and pediatric surgeons, residents and trainees, who will use the book to develop a clear understanding of what EOS is, how it is best treated, and the principles that underlie effective clinical decision-making in these complex cases.
Download or read book Neuromuscular Case Studies written by Tulio E. Bertorini and published by Elsevier Health Sciences. This book was released on 2008-05-06 with total page 661 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this unique book, Dr. Bertorini guides you through more than 100 cases that demonstrate the diagnosis and management of a wide range of common and rare neuromuscular disorders. No other reference boasts such a large array of clinical studies devoted to all areas of this broad topic! Each case study reviews the etiologies, pathogenesis, differential diagnosis, and management of a particular disorder, helping you not only recognize its presentation, but also determine a diagnosis and the best treatment plans for your patients. You'll also find expert guidance on the basic mechanisms of neuromuscular disorders, clinical examination, and diagnostic tests—including EMG, muscle biopsy, genetic testing, and more. - More than 100 detailed case studies explore both common and rare neuromuscular disorders and the treatment protocols for each, equipping you with the knowledge you need to confidently manage any challenge. Each case includes a summary of important points or highlights of the study. - Case studies are arranged either by complaint or by diagnosis so that you can successfully manage your patients with or without an initial diagnosis. - Comprehensive coverage of EMGs and nerve conduction studies and other diagnostic tests, including muscle and nerve biopsies and genetic testing, helps you accurately diagnose nerve, muscle, and neuromuscular transmission disorders. - Detailed discussions of treatment plans and commonly used drugs enhance your management of autoimmune disorders, painful neuropathy, dysautonomia, and other neuromuscular disorders. - A reader-friendly format takes you step by step through the diagnosis and treatment of neuromuscular disorders, from the basic anatomy and physiology of the nerve and muscle through to clinical evaluation, diagnostic testing, and therapy. - More than 350 high-quality illustrations, including full-color patient photographs, biopsies, and EMG tracings, make complex concepts easier to understand and apply.
Download or read book Augmentative and Alternative Communication Intervention written by and published by . This book was released on 1993 with total page 32 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Epidemiology of Drug Abuse written by Zili Sloboda and published by Springer Science & Business Media. This book was released on 2006-06-02 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: As the drug abuse epidemic evolves, so do the tools needed to understand and treat it. Accordingly, Epidemiology of Drug Abuse takes the long view, cogently outlining what the book calls "the natural history of drug abuse" and redefining its complex phenomena to reflect our present-day knowledge. Twenty-six eminent contributors discuss the state and future of the field, balancing the practical concerns involved in gathering drug abuse data with the ethics of using the information. - Current thinking on pathways and etiology, as well as medical, psychological, and social sequelae of drug abuse - Proven, up-to-date methodologies for assessment - Challenges of gathering data from high-risk and other user populations - Sampling and application issues - Uses, sources, and limitations of treatment data - Analytical papers applying the methodologies to specific and global studies - The role of epidemiology studies in developing prevention strategies With this multifaceted approach to the subject, Epidemiology of Drug Abuse provides researchers and educators with a reference that sheds significant light on infrequently covered areas. In addition, its breadth and accessibility of coverage make it a teaching text suitable to courses in epidemiology, public health, and drug abuse.
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 American Academy of Pediatrics Textbook of Pediatric Care written by Jane Meschan Foy and published by . This book was released on 2016-03-31 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive manual of pediatric medicine - completely updated with 75 new chapters and e-book access.
