Cassidy and Allanson's Management of Genetic Syndromes

Cassidy and Allanson's Management of Genetic Syndromes
Author: John C. Carey
Publisher: John Wiley & Sons
Total Pages: 1104
Release: 2021-01-27
Genre: Science
ISBN: 1119432677

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.

Pediatric Epilepsy

Pediatric Epilepsy
Author: Michael Duchowny
Publisher: McGraw Hill Professional
Total Pages: 526
Release: 2012-09-07
Genre: Medical
ISBN: 0071641327

Market: Neurologists and pediatricians Diagnostic and treatment algorithms appear throughout Includes sections on comorbidities and monotherapy vs. polytherapy

Tuberous Sclerosis Complex

Tuberous Sclerosis Complex
Author: David J. Kwiatkowski
Publisher: John Wiley & Sons
Total Pages: 415
Release: 2011-08-24
Genre: Science
ISBN: 3527644679

The only comprehensive overview of the molecular basis and clinical features of the genetic disorder tuberous sclerosis, which affects approximately 50,000 people in the US alone. Special focus is placed on novel insights into the signal transduction pathways affected by the disease as well as genotype phenotype correlations, while existing and potential therapies are also discussed in depth. The editors are leading experts in research and treatment of the disease as well as the Vice President of the Tuberous Sclerosis Alliance, the only voluntary health organization for TSC in the US.

Tuberous Sclerosis Complex

Tuberous Sclerosis Complex
Author: Paolo Curatolo
Publisher: Cambridge University Press
Total Pages: 332
Release: 2003-01-10
Genre: Medical
ISBN: 9781898683391

Correlating new genetic data and basic science regarding tuberous sclerosis, this collection covers clinical presentation; reviews history and current diagnostic criteria; and notes recent advances in neuropathology, molecular genetics and neurobiology. Tuberous sclerosis incorporates malformations characterized by disturbances in cellular differentiation and growth. It appears with a complex association of different neurological phenotypes, including seizures, cognitive impairments and autism.

Diffuse Cystic Lung Diseases

Diffuse Cystic Lung Diseases
Author: Nishant Gupta
Publisher: Springer Nature
Total Pages: 384
Release: 2021-01-28
Genre: Medical
ISBN: 3030633659

This book is a comprehensive reference on diffuse cystic lung diseases (DCLDs). DCLDs are a group of pathophysiologically heterogenous processes that are characterized by the presence of multiple spherical or irregularly shaped, thin-walled, air-filled spaces within the pulmonary parenchyma. In recent years, tremendous advancements have been made in these diseases leading to improved understanding of the underlying pathophysiology, and improved outcomes with targeted therapies. The authors, who are leading experts in the field, delineate DCLDs as a separate category distinct from other interstitial lung diseases, and have created this textbook specifically dedicated to this disease group. This book begins with a chapter introducing the definition and classification of DCLDs. Subsequent chapters address the pathogenic mechanisms underlying pulmonary cyst formation and provide a detailed overview of the radiological and pathological features of DCLDs. The common as well as uncommon causes of DCLDs are comprehensively reviewed in individual chapters, as are the varied clinical presentations and extrapulmonary manifestations, and approaches to management and treatment. The book culminates in a final chapter that presents a practical algorithmic approach to diagnosis that progresses from least invasive to most invasive approaches. This textbook provides a one-stop, comprehensive and integrated, clinical, radiologic, and pathologic overview of DCLDs that will be as useful to the practicing clinician as it is to the clinical investigator.

NORD Guide to Rare Disorders

NORD Guide to Rare Disorders
Author: National Organization for Rare Disorders
Publisher: Lippincott Williams & Wilkins
Total Pages: 982
Release: 2003
Genre: Medical
ISBN: 9780781730631

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.

Neurogenetics, Part II

Neurogenetics, Part II
Author:
Publisher: Elsevier
Total Pages: 480
Release: 2018-01-29
Genre: Medical
ISBN: 0444640770

Neurogenetics, Part II, Volume 148, the latest release in the Handbook of Clinical Neurology, provides the latest information on the genetic methodologies that are having a significant impact on the study of neurological and psychiatric disorders. Using genetic science, researchers have identified over 200 genes that cause or contribute to neurological disorders. Still an evolving field of study, defining the relationship between genes and neurological and psychiatric disorders is expected to dramatically grow in scope. Part II builds on the foundation of Part I, expanding the coverage to dementias, paroxysmal disorders, neuromuscular disorders, white matter and demyelination diseases, cerebrovascular diseases, adult psychiatric disorders and cancer and phacomatoses. - Contains comprehensive coverage of neurogenetics - Details the latest science and its impact on our understanding of neurological, psychiatric disorders - Presents a focused reference for clinical practitioners and the neuroscience/neurogenetics research community

Tuberous Sclerosis Complex

Tuberous Sclerosis Complex
Author: Manuel Rodriguez Gomez
Publisher: Oxford University Press
Total Pages: 365
Release: 1999-07-15
Genre: Medical
ISBN: 0198028474

Tuberous Sclerosis is a genetic disease characterized by lesions of the skin and central nervous system, seizures, and sometimes sever mental retardation. Infants with this disease may appear overactive, autistic, or socially impaired. Because tuberous sclerosis involves abnormal cellular differentiation, aberrant neuronal migration, and excessive cell proliferation, this thoroughly revised edition will be of interest to a wide range of professionals involved in the study of biological mechanisms underlying many genetically determined neurological disorders.

Atlas of Gross Neuropathology Book and Online Bundle

Atlas of Gross Neuropathology Book and Online Bundle
Author: Kathreena M. Kurian
Publisher: Cambridge University Press
Total Pages: 243
Release: 2014-08-21
Genre: Medical
ISBN: 1107038162

Unparalleled access to the entire central nervous system with over four hundred gross neuropathology images from adult and paediatric post-mortem tissues.