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Childhood Type Of Duchennes Pseudohypertrophic Muscular Dystrophy The Effects On The Family
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Book Synopsis Neuromuscular Disorders of Infancy, Childhood, and Adolescence by : Basil T. Darras
Download or read book Neuromuscular Disorders of Infancy, Childhood, and Adolescence written by Basil T. Darras and published by Elsevier. This book was released on 2014-12-03 with total page 1156 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science, diagnosis and treatment of neuromuscular disorders in childhood is a timely and needed resource for all clinicians and researchers studying neuromuscular disorders, especially in childhood. The Second Edition is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists. The Second Edition retains comprehensive coverage while shortening the total chapter count to be an even more manageable and effective reference. - Carefully revised new edition of the classic reference on neuromuscular disorders in infancy, childhood and adolescence. - Definitive coverage of the basic science of neuromuscular disease and the latest diagnosis and treatment best practices. - Includes coverage of clinical phenomenology, electrophysiology, histopathology, molecular genetics and protein chemistry
Book Synopsis Duchenne Muscular Dystrophy by : Alan E. H. Emery
Download or read book Duchenne Muscular Dystrophy written by Alan E. H. Emery and published by OUP Oxford. This book was released on 2015-02-19 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.
Book Synopsis Genetics and Neurology by : Sarah Bundey
Download or read book Genetics and Neurology written by Sarah Bundey and published by Elsevier. This book was released on 2014-04-24 with total page 355 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics and Neurology focuses on disorders that affect the nervous system, including atrophies, neuropathies, and tumors. The book first examines malformations of the central nervous system, phacomatoses and tumors, and cerebral degenerative disorders of childhood. Topics include malformations of the corpus callosum and neighboring structures; abnormalities of closure of neural tube; spongiform leucodystrophy; and tumors of the nervous system. The text then takes a look at extrapyramidal disorders and dyskinesias and muscle disorders. The publication elaborates on spinal muscular atrophies (SMAs), cerebellar and spinocerebellar ataxias, and hereditary neuropathies. Discussions focus on hereditary motor and sensory neuropathies of infancy and early childhood; peripheral neuropathies and lipid disorders; and congenital cerebellar ataxias. The book also discusses spastic paraplegias and multifactorial inheritance and neurological diseases. The text is a valuable reference for readers interested in genetics and neurology.
Book Synopsis Landmark Papers in Neurology by : Martin R. Turner
Download or read book Landmark Papers in Neurology written by Martin R. Turner and published by Landmark Papers in. This book was released on 2015 with total page 553 pages. Available in PDF, EPUB and Kindle. Book excerpt: Current understanding of neurological disease has been evolving over the past 150 years. With the increasing and earlier sub-specialization of neurology trainees, and their variable exposure to higher academic study, there is little opportunity to put this development into a historical context as a whole. Understanding the 'evidence-base', or appreciating the lack of it in some cases, is an important part of training but this is rarely presented in a palatable, entertaining form. Part of the Landmark Papers in series, this book brings together the ten most important papers for each sub-speciality within neurology, covering the full range of major neurological conditions. Papers have been selected by leading international experts, who not only summarize what each paper showed, but place them into a wider context that makes a coherent story of how their sub-speciality has developed.
Book Synopsis Atlas of X-Linked Intellectual Disability Syndromes by : Roger E. Stevenson
Download or read book Atlas of X-Linked Intellectual Disability Syndromes written by Roger E. Stevenson and published by Oxford University Press. This book was released on 2012-07-12 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.
Author :National Organization for Rare Disorders Publisher :Lippincott Williams & Wilkins ISBN 13 :9780781730631 Total Pages :982 pages Book Rating :4.7/5 (36 download)
Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders
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.
Book Synopsis Muscle Disorders in Childhood by : Victor Dubowitz
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.
Book Synopsis Disorders of Voluntary Muscle by : George Karpati
Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Book Synopsis Neuromuscular Disorders by : Satish V. Khadilkar
Download or read book Neuromuscular Disorders written by Satish V. Khadilkar and published by Springer. This book was released on 2017-12-28 with total page 534 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a concise overview of the diagnosis and therapy of a wide variety of neuromuscular disorders, in tabulated form and with illustrative cases. Treating neuromuscular disorders calls for a sound, step-by-step clinical approach based on differential diagnosis and laboratory investigations. Yet to date, there has been no single, compact book that offers all the relevant information related to the management of these disorders. This book fills that gap, presenting the state of the art in the field and addressing practical problems together with their solutions. Each chapter covers disorder characteristics, clinical differentiating points, relevant investigations and their interpretation, available genetic testing, best management approaches and counselling. Illustrative cases provide valuable insights, while extensive tables and illustrations mean that information can be rapidly found.
Book Synopsis Tics and Their Treatment by : Henry Meige
Download or read book Tics and Their Treatment written by Henry Meige and published by . This book was released on 1907 with total page 414 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Chou's Electrocardiography in Clinical Practice by : Borys Surawicz
Download or read book Chou's Electrocardiography in Clinical Practice written by Borys Surawicz and published by Elsevier Health Sciences. This book was released on 2008-03-05 with total page 747 pages. Available in PDF, EPUB and Kindle. Book excerpt: Widely considered the optimal electrocardiography reference for practicing physicians, and consistently rated as the best choice on the subject for board preparation, this is an ideal source for mastering the fundamental principles and clinical applications of ECG. The 6th edition captures all of the latest knowledge in the field, including expanded and updated discussions of pediatric rhythm problems, pacemakers, stress testing, implantable cardiodefibrillator devices, and much more. It's the perfect book to turn to for clear and clinically relevant guidance on all of today's ECG applications. - Comprehensively and expertly describes how to capture and interpret all normal and abnormal ECG findings in adults and children. - Features the expertise of internationally recognized authorities on electrocardiography, for advanced assistance in mastering the subtle but critical nuances of this complex diagnostic modality. - Features new chapters on pediatric electrocardiography that explore rhythm problems associated with pediatric obesity, heart failure, and athletic activity. - Presents a new chapter on recording and interpreting heart rhythms in patients with pacemakers. - Includes new material on interpreting ECG findings associated with implantable cardioverter-defibrillators. - Provides fully updated coverage on the increased importance of ECGs in stress testing.
Book Synopsis Birth Defects in India by : Anita Kar
Download or read book Birth Defects in India written by Anita Kar and published by Springer Nature. This book was released on 2021-07-08 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the epidemiology of birth defects and their public health and social implications in India. As neglected childhood disorders, birth defects remain invisible in global maternal and child health dialogues. Birth defects services are emerging in India. This book approaches birth defects from a public health perspective, identifying the core functions of a birth defects service. Keeping in mind the complex task of providing multidisciplinary services for children with disabilities and complex medical conditions, the book examines the basic public health activities that have been put in place to address these conditions in India. The book describes birth defects surveillance and the challenges of acquiring accurate and timely data on birth defects against the background of India’s mixed health system. It discusses opportunities for prevention of birth defects and describes the structure and function of an emergent genetic service. It explores issues related to an integrated service for children with special healthcare needs, such as screening, early intervention, and rehabilitation. Furthermore, it describes the impact of these conditions on caregivers, including birth defects stigma. This book not only addresses a knowledge gap in the field of public health in India, but also explores the broader issues of services for children with disabilities and disabling conditions in low and low-middle income settings where access to health care is not universal. Given the depth and breadth of its coverage, the book offers an essential resource for birth defects researchers, researchers in the field of maternal and child health, public health/ global health, disability researchers, and researchers from the fields of rehabilitation sciences, nursing and anthropology. This book will be a valuable read for social medicine/community medicine departments, global health courses, and public health schools in India and other low middle-income countries.
Book Synopsis Maternal-Child Nursing Care Optimizing Outcomes for Mothers, Children, & Families by : Susan Ward
Download or read book Maternal-Child Nursing Care Optimizing Outcomes for Mothers, Children, & Families written by Susan Ward and published by F.A. Davis. This book was released on 2015-06-03 with total page 1765 pages. Available in PDF, EPUB and Kindle. Book excerpt: It offers the perfect balance of maternal and child nursing care with the right depth and breadth of coverage for students in today’s maternity/pediatric courses. A unique emphasis on optimizing outcomes, evidence-based practice, and research supports the goal of caring for women, families and children, not only in traditional hospital settings, but also wherever they live, work, study, or play. Clear, concise, and easy to follow, the content is organized around four major themes, holistic care, critical thinking, validating practice, and tools for care that help students to learn and apply the material.
Book Synopsis Absolute Pediatric Neurology by : Yasser M. Awaad
Download or read book Absolute Pediatric Neurology written by Yasser M. Awaad and published by Springer. This book was released on 2018-07-24 with total page 736 pages. Available in PDF, EPUB and Kindle. Book excerpt: This practical book features more than 1000 questions and answers with illustrations for pediatric neurologists, adult neurologists, general pediatricians and students taking their initial board examination and maintenance of certification. All questions are in multiple choice format and followed by the correct answer with a full explanation and appropriate references. Chapters are sectioned by different topics in pediatric neurology, including Epilepsy, Metabolic Disorders and Movement Disorders and other topics. Timely and thorough, this is a handy and succinct resource.
Book Synopsis Pharmacology Success by : Ray A Hargrove-Huttel
Download or read book Pharmacology Success written by Ray A Hargrove-Huttel and published by F.A. Davis. This book was released on 2014-03-25 with total page 503 pages. Available in PDF, EPUB and Kindle. Book excerpt: Two books in one! Course review now. NCLEX-prep later. 1,250 critical thinking questions (both multiple choice and alternate format) organize the seemingly huge volume of pharmacology information you must master into manageable sections divided by body systems and specific diseases. You’ll not only learn to associate the medication with the disease process, making learning easier, but are also be to evaluate your knowledge of medications prior to taking exams.
Book Synopsis Disorders of Movement by : Davide Martino
Download or read book Disorders of Movement written by Davide Martino and published by Springer. This book was released on 2015-12-17 with total page 458 pages. Available in PDF, EPUB and Kindle. Book excerpt: This concise but comprehensive book will help interested readers in the health care professions to navigate their way through the jungle of movement disorders, including the potentially complex differential diagnosis and management. The different disorders are discussed in individual sections that explain how to examine the patient and recognize the disorder from its basic phenomenology, how to confirm a diagnosis, how to distinguish a particular disorder from related conditions, and how to treat each disorder effectively. The book makes liberal use of diagrams, algorithms, tables, summary boxes, and illustrations to facilitate solution of clinical problems at the bedside and to solidify previously learned clinical and therapeutic concepts. It will be of interest to a broad audience of health professionals, scientists, and medical students.
Book Synopsis Essential Neurosurgery by : Andrew H. Kaye
Download or read book Essential Neurosurgery written by Andrew H. Kaye and published by John Wiley & Sons. This book was released on 2009-02-12 with total page 312 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential Neurosurgery provides a comprehensive introductionto neurosurgery for junior surgical trainees and medical students.The book concentrates on the principles of neurosurgical diagnosisand management of the more common central nervous system problems,including an understanding of neurology and the pathological basisof neurological disease. There is also coverage of neurosurgicaltechniques and postoperative patient management. This new edition brings the text fully up to date and includesmany of the biological and technological advances made in the fieldof neurosurgery that have improved surgical possibilities andpatient outcomes. Review quotations from the previous edition ‘flowing and well highlighted text keeps the readerinterested in the subject’ British Journal of Neurosurgery ‘an excellent text…well organised and clearly setout’ Journal of Neurology, Neurosurgery and Psychiatry
