Tuberous Sclerosis Complex

Tuberous Sclerosis Complex

Author: David J. Kwiatkowski

Publisher: John Wiley & Sons

Published: 2011-08-24

Total Pages: 415

ISBN-13: 3527644679

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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.


Cassidy and Allanson's Management of Genetic Syndromes

Cassidy and Allanson's Management of Genetic Syndromes

Author: John C. Carey

Publisher: John Wiley & Sons

Published: 2021-01-27

Total Pages: 1104

ISBN-13: 1119432677

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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.


Atlas of Pediatric Brain Tumors

Atlas of Pediatric Brain Tumors

Author: Adekunle M. Adesina

Publisher: Springer

Published: 2016-10-03

Total Pages: 327

ISBN-13: 3319334328

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This text was created to fill a void in the practice of pediatric neuropathology. It is a practical and well-illustrated book representing a collection of interesting, common and unusual tumors for a diagnostic exercise by the reader. The wide reception of the first edition by the pathology community is testament to its relevance and utility in the pathologic diagnosis of pediatric brain tumors. This edition covers topics ranging from neuroimaging, the use of crush and touch preps during intraoperative consultation, classic histological features of pediatric brain tumors, tumor variants, and a miscellaneous group of challenging tumors. Chapters consist of essential diagnostic information and features highlighting recognized variants and their differential diagnoses. A section on molecular pathology and electron microscopy is also included for each tumor category, along with a list of classic reviews and innovative articles on each of the tumor entities as suggested reading at the end of each chapter. Atlas of Pediatric Brain Tumors, Second Edition represents the state of the art in pediatric neuropathology with easy utility beside the microscope.


Tuberous Sclerosis Complex

Tuberous Sclerosis Complex

Author: Paolo Curatolo

Publisher: Cambridge University Press

Published: 2003-01-10

Total Pages: 332

ISBN-13: 9781898683391

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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.


Atlas of Inherited Retinal Diseases

Atlas of Inherited Retinal Diseases

Author: Stephen H. Tsang

Publisher: Springer

Published: 2018-12-21

Total Pages: 262

ISBN-13: 3319950460

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This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.


Neurogenetics, Part II

Neurogenetics, Part II

Author:

Publisher: Elsevier

Published: 2018-01-29

Total Pages: 480

ISBN-13: 0444640770

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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


Diffuse Cystic Lung Diseases

Diffuse Cystic Lung Diseases

Author: Nishant Gupta

Publisher: Springer Nature

Published: 2021-01-28

Total Pages: 384

ISBN-13: 3030633659

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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.


Pediatric Epilepsy

Pediatric Epilepsy

Author: Michael Duchowny

Publisher: McGraw Hill Professional

Published: 2012-09-07

Total Pages: 526

ISBN-13: 0071641327

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


Sleep in Children with Neurodevelopmental Disabilities

Sleep in Children with Neurodevelopmental Disabilities

Author: Jennifer A. Accardo

Publisher: Springer

Published: 2018-12-13

Total Pages: 386

ISBN-13: 3319984144

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This practical guide presents approaches to working with children and adolescents with neurodevelopmental disabilities who have sleep problems. Divided into four sections, the book begins with the impact of sleep problems in children with disabilities and the evaluation of sleep complaints. The next two sections cover the major categories of sleep disorders as they apply in children with disabilities, and specific neurodevelopmental disabilities with their characteristic sleep manifestations. The last section details options for treatment, which include behavioral and environmental strategies, occupational therapy, exercise, and medications. Chapters feature case studies that introduce and reinforce diagnostic and therapeutic approaches. Those engaged in the care of children with neurodevelopmental disabilities and sleep problems will find this text to be an invaluable guide when assessing and treating sleep disorders.


Adverse Effects of Pertussis and Rubella Vaccines

Adverse Effects of Pertussis and Rubella Vaccines

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1991-02-01

Total Pages: 382

ISBN-13: 0309103681

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Parents have come to depend on vaccines to protect their children from a variety of diseases. Some evidence suggests, however, that vaccination against pertussis (whooping cough) and rubella (German measles) is, in a small number of cases, associated with increased risk of serious illness. This book examines the controversy over the evidence and offers a comprehensively documented assessment of the risk of illness following immunization with vaccines against pertussis and rubella. Based on extensive review of the evidence from epidemiologic studies, case histories, studies in animals, and other sources of information, the book examines: The relation of pertussis vaccines to a number of serious adverse events, including encephalopathy and other central nervous system disorders, sudden infant death syndrome, autism, Guillain-Barre syndrome, learning disabilities, and Reye syndrome. The relation of rubella vaccines to arthritis, various neuropathies, and thrombocytopenic purpura. The volume, which includes a description of the committee's methods for evaluating evidence and directions for future research, will be important reading for public health officials, pediatricians, researchers, and concerned parents.