Syndromes: Rapid Recognition and Perioperative Implications

Syndromes: Rapid Recognition and Perioperative Implications

Author: Bruno Bissonnette

Publisher: McGraw-Hill Education / Medical

Published: 2006-08-10

Total Pages: 988

ISBN-13:

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Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.


Inborn Disorders of Sphingolipid Metabolism

Inborn Disorders of Sphingolipid Metabolism

Author: Stanley M. Aronson

Publisher: Elsevier

Published: 2017-01-31

Total Pages: 530

ISBN-13: 1483223582

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Inborn Disorders of Sphingolipid Metabolism is a collection of papers presented at the Third International Symposium on the Cerebral Sphingolipidoses and Allied Diseases, held at the Isaac Albert Research Institute of the Jewish Chronic Disease Hospital and at the State University of New York, Downstate Medical Center, on October 25 and 26, 1965. This book is organized into three parts encompassing 35 chapters. Part I deals first with electron microscopic, histochemical, and morphological investigations of certain sphingolipid metabolism disorders. This part also examines several case reports on the features and symptoms of spongy degeneration of the central nervous system, familial leukodystrophy, adrenal insufficiency, and cutaneous melanosis. Part II surveys the metabolism, biosynthesis, and structure of gangliosides and sialic acids. This part also considers the nature of the lipophilic portions of the brain gangliosides. This part particularly looks into the features and clinical manifestation of Tay-Sachs disease. The third part covers the genetic and clinical aspects of the Tay-Sachs disease. This part also evaluates the genetics of the Hurler-Hunter syndrome, Batten-Spielmeyer-Vogt disease, and lipogranulomatosis syndrome. This book is of value to biochemists, histochemists, geneticists, and researchers in the allied fields of lipidosis.


Cellular Pathophysiology

Cellular Pathophysiology

Author: Mohammed M. Sayeed

Publisher: CRC Press

Published: 1989-05-31

Total Pages: 186

ISBN-13: 9780849340611

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In recent years, there has been increased research on cellular pathophysiology in animal and tissue models simulating human disease processes. The result of this research, which has been carried out primarily by physiologists, pharmacologists, biochemists, anatomists, pathologists, and clinicians, is now presented in this forum. A better understanding of how cellular, subcellular and molecular mechanisms initiate and progressively intensify organic/systemic disease processes is important in the development of rational therapies against these disease processes.


Hurwitz Clinical Pediatric Dermatology

Hurwitz Clinical Pediatric Dermatology

Author: Amy Paller

Publisher: Saunders

Published: 2006

Total Pages: 756

ISBN-13:

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This thoroughly updated text covers the full range of pediatric diseases, with special emphasis on management and which methods work best. Maintains the steadfast tradition of Sid Hurwitz.s ground-breaking work.


Genetic Neuromuscular Disorders

Genetic Neuromuscular Disorders

Author: Corrado Angelini

Publisher: Springer

Published: 2017-10-05

Total Pages: 392

ISBN-13: 3319564544

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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.


Neuromuscular Imaging

Neuromuscular Imaging

Author: Mike P. Wattjes

Publisher: Springer Science & Business Media

Published: 2013-06-05

Total Pages: 432

ISBN-13: 1461465524

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Neuromuscular imaging has increasingly become an important tool in the detection and diagnosis of inherited and acquired neuromuscular disease. This book is a groundbreaking radiological and neurological overview of current methods and applications of imaging—including aspects of neuroimaging and musculoskeletal imaging—in patients with inherited, metabolic, and inflammatory muscle diseases. Imaging features are discussed in the context of clincial presentation, histopathology, therapeutic options and differential diagnosis. World leading expert contributors give a comprehensive and didactic review of neuromuscular disorders and available imaging modalities, each illustrated with numerous figures. Topics discussed include: -Modalities such as ultrasound, CT and MRI -Muscle anatomy and physiology -Clinical applications in hereditary and acquired myopathies -Clinical applications in motor neuron disorders and peripheral nerve imaging


Liver Disease in Children

Liver Disease in Children

Author: Frederick J. Suchy

Publisher: Cambridge University Press

Published: 2007-05-07

Total Pages: 995

ISBN-13: 1139464035

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Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.


Aminoff's Neurology and General Medicine

Aminoff's Neurology and General Medicine

Author: Michael J. Aminoff

Publisher: Elsevier

Published: 2014-02-18

Total Pages: 1393

ISBN-13: 0124077382

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Aminoff's Neurology and General Medicine is the standard and classic reference providing comprehensive coverage of the relationship between neurologic practice and general medicine. As neurologists are asked to consult on general medical conditions, this reference provides an authoritative tool linking general medical conditions to specific neurologic issues and disorders. This is also a valuable tool for the general practitioner seeking to understand the neurologic aspects of their medical practice. Completely revised with new chapters covering metastatic disease, bladder disease, psychogenic disorders, dementia, and pre-operative and post-operative care of patients with neurologic disorders, this new edition will again be the go-to reference for both neurologists and general practitioners. - The standard authoritative reference detailing the relationship between neurology and general medicine - 100% revised and updated with several new chapters - Well illustrated, with most illustrations in full color