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Fatal Infantile Hypertonic Muscular Dystrophy
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Book Synopsis Companion to Clinical Neurology by : William Pryse-Phillips
Download or read book Companion to Clinical Neurology written by William Pryse-Phillips and published by Oxford : Oxford University Press. This book was released on 2003 with total page 1127 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Depicts or explains neurology's bygone leaders as well as its symptoms, signs, syndromes, diseases, eponyms, operative procedures, and diagnostic tests."--Foreword.
Book Synopsis Advancing genomics for rare disease diagnosis and therapy development vol II by : Weida Tong
Download or read book Advancing genomics for rare disease diagnosis and therapy development vol II written by Weida Tong and published by Frontiers Media SA. This book was released on 2023-09-07 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Pediatric Neurology, Part III written by and published by Newnes. This book was released on 2013-04-24 with total page 731 pages. Available in PDF, EPUB and Kindle. Book excerpt: The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. - A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology - International list of contributors including the leading workers in the field - Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care
Book Synopsis Pediatric Neurology Part III by : Kristl G. Claeys
Download or read book Pediatric Neurology Part III written by Kristl G. Claeys and published by Elsevier Inc. Chapters. This book was released on 2013-04-24 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt: Myofibrillar myopathies (MFMs) are rare, inherited or sporadic, progressive neuromuscular disorders with considerable clinical and genetic heterogeneity. MFMs are defined morphologically by foci of myofibril dissolution that begins at the Z-disk, accumulation of myofibrillar degradation products, and ectopic expression of a large number of proteins including desmin. To date, mutations in six genes are known to cause MFMs, accounting for approximately half of the MFM patients identified. The causative genes encode mainly sarcomeric Z-disk(-related) proteins: desmin, αB-crystallin, myotilin, Z-band alternatively spliced PDZ motif containing protein (ZASP), filamin C and the antiapoptotic BCL2-associated athanogene 3 (Bag3). Although in most MFM patients the disease presents in adulthood and evolves slowly, some patients with desminopathy, αB-crystallinopathy or Bag3opathies have an infantile or juvenile disease onset. Cardiac involvement is very common in desminopathies and can sometimes be the initial or only symptom of the disease. Respiratory symptoms are noted during childhood in αB-crystallinopathies. Early severe cardiac and respiratory involvement is seen in Bag3opathies. Optical microscopic and immunohistochemical features are similar in MFMs; however, ultrastructural findings can be useful to differentiate between the distinct MFM subtypes. No curative treatment for MFMs is currently available. Careful follow-up, especially of cardiac and respiratory function, is important.
Book Synopsis Eye Proteins—Advances in Research and Application: 2012 Edition by :
Download or read book Eye Proteins—Advances in Research and Application: 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 411 pages. Available in PDF, EPUB and Kindle. Book excerpt: Eye Proteins—Advances in Research and Application: 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Eye Proteins in a concise format. The editors have built Eye Proteins—Advances in Research and Application: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Eye Proteins in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Eye Proteins—Advances in Research and Application: 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Book Synopsis Evaluation and Treatment of Myopathies by : Emma Ciafaloni
Download or read book Evaluation and Treatment of Myopathies written by Emma Ciafaloni and published by Oxford University Press. This book was released on 2014-05-26 with total page 387 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition of Evaluation and Treatment of Myopathies is written for the clinician who sees patients with muscle disease, or the patient with complaints of pain or weakness of muscle. Like the original, this new edition is divided in to 3 primary sections: Approach to the Patient with Muscle Disease, Specific Myopathies, and General Strategies of Clinical Management, each section providing practical guidance to eliciting key histories and demonstrate findings upon examination. This new edition also provides guidance on the next steps in diagnoses as well as the latest information on pathogenesis, diagnosis, and treatment, in an integrated manner, so as to give trainees, practicing clinicians and others who see neuromuscular disease perspective on how to evaluate and care for patients. New and revised tables, figures, and references are selected and organized to present information of clinical importance to provide the most up-to-date resource on the myopathies.
Download or read book Proceedings written by and published by . This book was released on 1997 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Cumulated Index Medicus written by and published by . This book was released on 1966 with total page 1636 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis The Yearbook of neurology and neurosurgery. 1996 by : Walter G. Bradley
Download or read book The Yearbook of neurology and neurosurgery. 1996 written by Walter G. Bradley and published by . This book was released on 1996 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Journal Canadien Des Sciences Neurologiques by :
Download or read book Journal Canadien Des Sciences Neurologiques written by and published by . This book was released on 1998 with total page 698 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Principles of Child Neurology by : Bruce O. Berg
Download or read book Principles of Child Neurology written by Bruce O. Berg and published by McGraw-Hill Professional Publishing. This book was released on 1996 with total page 1882 pages. Available in PDF, EPUB and Kindle. Book excerpt: Patterned after Adams and Victor's "Principles of Neurology," this text begins with Approach to the Patient, '' then details the cardinal manifestations and the major disease categories for diagnosing pediatric neurologic disorders.
Download or read book Muscle Disease written by Hans H. Goebel and published by John Wiley & Sons. This book was released on 2013-05-29 with total page 731 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written by more than 60 international experts in the field, Muscle Disease embodies the explosion of new concepts and information on the pathology and genetics of muscle disease that has occurred in recent years. In order to accommodate the new complex principles involved, the book is organized around the motor unit and the inherited disorders, in particular, are centered on the ultrastructure and organelles within the muscle fiber. In this way, the wide spectrum of muscle diseases, ranging from neurogenic and inflammatory disorders to those involving defects in a single gene, can be expressed in a logical sequence. For example, disorders that principally involve specific organelles or particular metabolic processes are grouped together, with sections on disorders of the sarcolemma, mitochondria, myofibrils, glycogen and lipid metabolism, etc. Firm reference to clinical aspects and classification of muscle diseases has been maintained throughout the book with an initial clinical overview and with specific clinical sections in each chapter. For ease of navigation through the complex variety of muscle diseases, each chapter has been organized in a standard pattern that allows the reader to easily locate information on individual disease entities in different chapters. This new edition of Muscle Disease: Pathology and Genetics will be a very valuable resource for clinicians, pathologists, geneticists and basic neuroscientists involved in diagnosis, research, treatment and management of patients with muscle disease.
Book Synopsis Keeling's Fetal and Neonatal Pathology by : T. Yee Khong
Download or read book Keeling's Fetal and Neonatal Pathology written by T. Yee Khong and published by Springer Nature. This book was released on 2022-01-01 with total page 918 pages. Available in PDF, EPUB and Kindle. Book excerpt: This sixth edition provides an overview of fetal and neonatal pathology through a system-based approach. This book contains new chapters on immunology, with a continued focus on molecular aspects of pathology in the perinatal setting. The general principles of perinatal pathology and their clinical situations are also discussed, along with specific pathological entities and their organ systems. Keeling’s Fetal and Neonatal Pathology, sixth edition aims to help the reader treat common problems through anatomical pathology findings and is relevant to practicing and trainee pathologists, obstetricians, maternal and fetal medicine specialists, neonatologists, and pediatricians.
Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual
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 JAMA written by and published by . This book was released on 1928 with total page 1046 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Diseases of the Nervous System in Childhood by : Jean Aicardi
Download or read book Diseases of the Nervous System in Childhood written by Jean Aicardi and published by Mac Keith Press. This book was released on 2009-03-16 with total page 984 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition is comprehensively updated whilst retaining both the popular problem-solving approach and its familiar organisation and style. Notable advances receive careful coverage, from molecular genetics and imaging technology to 'new' diseases and important treatmen developments.
Book Synopsis 1997 Year Book of Neurology and Neurosurgery by : Walter G. Bradley
Download or read book 1997 Year Book of Neurology and Neurosurgery written by Walter G. Bradley and published by Mosby. This book was released on 1997 with total page 612 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text presents current information and recent research on neurology.
