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Author : Sergiusz Jozwiak
Publisher : Frontiers Media SA
ISBN 13 : 288971733X
Total Pages : 178 pages
Book Rating : 4.8/5 (897 download)
Download or read book Tuberous Sclerosis Complex - Diagnosis and Management written by Sergiusz Jozwiak and published by Frontiers Media SA. This book was released on 2021-11-30 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : John C. Carey
Publisher : John Wiley & Sons
ISBN 13 : 1119432677
Total Pages : 1104 pages
Book Rating : 4.1/5 (194 download)
Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : Manuel Rodriguez Gomez
Publisher : Oxford University Press
ISBN 13 : 0198028474
Total Pages : 365 pages
Book Rating : 4.1/5 (98 download)
Download or read book Tuberous Sclerosis Complex written by Manuel Rodriguez Gomez and published by Oxford University Press. This book was released on 1999-07-15 with total page 365 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : David J. Kwiatkowski
Publisher : John Wiley & Sons
ISBN 13 : 3527644679
Total Pages : 415 pages
Book Rating : 4.5/5 (276 download)
Download or read book Tuberous Sclerosis Complex written by David J. Kwiatkowski and published by John Wiley & Sons. This book was released on 2011-08-24 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)
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.
Author : Paolo Curatolo
Publisher : Cambridge University Press
ISBN 13 : 9781898683391
Total Pages : 332 pages
Book Rating : 4.6/5 (833 download)
Download or read book Tuberous Sclerosis Complex written by Paolo Curatolo and published by Cambridge University Press. This book was released on 2003-01-10 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : Nishant Gupta
Publisher : Springer Nature
ISBN 13 : 3030633659
Total Pages : 384 pages
Book Rating : 4.0/5 (36 download)
Download or read book Diffuse Cystic Lung Diseases written by Nishant Gupta and published by Springer Nature. This book was released on 2021-01-28 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author :
Publisher : Elsevier
ISBN 13 : 0444640770
Total Pages : 480 pages
Book Rating : 4.4/5 (446 download)
Download or read book Neurogenetics written by and published by Elsevier. This book was released on 2018-01-09 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Author : Paolo CURATOLO
Publisher : John Libbey Eurotext
ISBN 13 : 2742008705
Total Pages : 247 pages
Book Rating : 4.7/5 (42 download)
Download or read book Neurocutaneous Syndrome in Development Age written by Paolo CURATOLO and published by John Libbey Eurotext. This book was released on 2006-01-01 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurocutaneous syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual diagnosis. They include a large group of neurological disorders (neurofibromatosis type I, tuberous sclerosis complex, Sturge-Weber Syndrome, Von Hippel Lindau syndrome, hypomelanosis of Ito, and others) which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures, and psychiatric problems. In the past few years our knowledge of neurocutaneous syndromes has increased dramatically. Detailed information about the clinical features, natural history, and management of these complex multisystem disorders, and new data on the genetics of these conditions, has provided insight into their classification, pathophysiology, molecular biology, and genotype–phenotype correlations.
Author : Randi Jenssen Hagerman
Publisher : Oxford University Press, USA
ISBN 13 : 019993780X
Total Pages : 401 pages
Book Rating : 4.1/5 (999 download)
Download or read book Treatment of Neurodevelopmental Disorders written by Randi Jenssen Hagerman and published by Oxford University Press, USA. This book was released on 2014 with total page 401 pages. Available in PDF, EPUB and Kindle. Book excerpt: This cutting-edge book brings advances in genetics, neurobiology, and psychopharmacology to the clinic to enhance treatment for neurodevelopmental disorders. Significant progress has been made in identifying the neurobiological mechanisms of several disorders and targeted treatments are modifying the outcome of these disorders. However, the ability to utilize this knowledge has not been summarized in one place for the practicing clinician. This book will fill that gap by providing the theoretical underpinnings and the latest advances in targeted treatments. Several neurodevelopmental disorders are reviewed in detail including clinical features and behavioral phenotypes, standard treatments and new targeted treatments based on the latest advances in neurobiology and the animal model studies that have lead to new treatments. The disorders covered include psychiatric disorders: schizophrenia, depression, autism and ADHD; single gene disorders including Tuberous Sclerosis, Fragile X Syndrome and fragile X- associated disorders, Angelman Syndrome, PKU, and Muscular Dystrophies; and complex genetic disorders such as Down syndrome. This book also highlights the commonalities across disorders and new genetic and molecular concepts in an easy to read format. This is a very exciting time for new targeted treatments and this volume is a landmark treatise on this new age of treatment.
Author : Simon Shorvon
Publisher : John Wiley & Sons
ISBN 13 : 1118936981
Total Pages : 1072 pages
Book Rating : 4.1/5 (189 download)
Download or read book The Treatment of Epilepsy written by Simon Shorvon and published by John Wiley & Sons. This book was released on 2015-09-15 with total page 1072 pages. Available in PDF, EPUB and Kindle. Book excerpt: Highly Commended at the British Medical Association Book Awards 2016 The Treatment of Epilepsy, fourth edition, is a comprehensive reference and clinical guide to the pharmacological, medical and surgical options available in the treatment of epilepsy. The text is compiled by a group of internationally renowned editors and contributors and is now in full color and extensively illustrated The first two sections cover the background to, and principles of, treatment in different clinical situations Section three comprises a series of systematic reviews of contemporary drug therapy, devoting one chapter to each anti-epileptic drug and covering all clinically-relevant aspects Section four focuses on the surgical options, devoting individual chapters to each of the modalities of presurgical assessment and to each surgical operation or approach This 4th edition is extensively revised incorporating the many recent developments in therapy, and comprises 81 chapters from world experts from 18 countries
Author : Kathreena M. Kurian
Publisher : Cambridge University Press
ISBN 13 : 1107038162
Total Pages : 243 pages
Book Rating : 4.1/5 (7 download)
Download or read book Atlas of Gross Neuropathology Book and Online Bundle written by Kathreena M. Kurian and published by Cambridge University Press. This book was released on 2014-08-21 with total page 243 pages. Available in PDF, EPUB and Kindle. Book excerpt: Unparalleled access to the entire central nervous system with over four hundred gross neuropathology images from adult and paediatric post-mortem tissues.
Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309044995
Total Pages : 382 pages
Book Rating : 4.3/5 (9 download)
Download or read book Adverse Effects of Pertussis and Rubella Vaccines written by Institute of Medicine and published by National Academies Press. This book was released on 1991-01-01 with total page 382 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author : Daniela Prayer
Publisher : Springer Science & Business Media
ISBN 13 : 3540732713
Total Pages : 531 pages
Book Rating : 4.5/5 (47 download)
Download or read book Fetal MRI written by Daniela Prayer and published by Springer Science & Business Media. This book was released on 2011-02-15 with total page 531 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the most comprehensive book to be written on the subject of fetal MRI. It provides a practical hands-on approach to the use of state-of-the-art MRI techniques and the optimization of sequences. Fetal pathological conditions and methods of prenatal MRI diagnosis are discussed by organ system, and the available literature is reviewed. Interpretation of findings and potential artifacts are thoroughly considered with the aid of numerous high-quality illustrations. In addition, the implications of fetal MRI are explored from the medico-legal and ethical points of view. This book will serve as a detailed resource for radiologists, obstetricians, neonatologists, geneticists, and any practitioner wanting to gain an in-depth understanding of fetal MRI technology and applications. In addition, it will provide a reference source for technologists, researchers, students, and those who are implementing a fetal MRI service in their own facility.
Author : Christos P. Panteliadis
Publisher : "Elsevier,Urban&FischerVerlag"
ISBN 13 : 3437171178
Total Pages : 314 pages
Book Rating : 4.4/5 (371 download)
Download or read book Neurocutaneous Disorders written by Christos P. Panteliadis and published by "Elsevier,Urban&FischerVerlag". This book was released on 2016-01-14 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurocutaneous syndromes and hemangiomas encompass a substantial proportion of congenital or hereditary disorders, and present themselves through variable clinical features. Though often complex and multi-systemic, these disorders can mostly be diagnosed by simple visual inspections and strong clinical expertise. The purpose of this book is to compile in a single volume a comprehensive review of the historical perspective, the clinical features, the current knowledge concerning the pathogenesis, and the diagnostic and therapeutic strategies associated with these challenging disorders. Strong emphasis throughout is given on the biochemical, molecular, and genetic basis of these syndromes. The international editorial team have drawn upon contributions from colleagues, and from fully referenced information from thousands of articles, thus providing the reader with an outstanding up-to-date resource for the diagnosis and treatment of neurocutaneous disorders.
Author : Vania Nosé
Publisher : Elsevier Health Sciences
ISBN 13 : 0323712053
Total Pages : 897 pages
Book Rating : 4.3/5 (237 download)
Download or read book Diagnostic Pathology: Familial Cancer Syndromes written by Vania Nosé and published by Elsevier Health Sciences. This book was released on 2020-02-14 with total page 897 pages. Available in PDF, EPUB and Kindle. Book excerpt: This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Physicians should have the knowledge derived from morphological findings to identify the likelihood of a cancer patient having an additional underlying familial syndrome— and to decide if that patient should undergo molecular genetic evaluation. This volume is specifically designed to help pathologists, oncologists, and other physicians who diagnose and treat cancer to recognize syndromes and syndrome- associated neoplasms and advise patients and their families on the possibility of a familial syndrome and their risk of developing other tumors. Diagnostic Pathology: Familial Cancer Syndromes, second edition, is an easy-to-use, one-stop reference for information on hereditary cancer syndromes, including differential diagnosis and management, that offers a templated, highly formatted design; concise, bulleted text; and superior color images throughout. Contains all the information necessary to determine whether a neoplasm typically encountered in daily practice is sporadic or related to a familial cancer syndrome Features a revised structure to keep you up to date: Part I includes more than 80 detailed chapters describing diagnoses associated with familial cancer syndromes; Part II contains more than 70 chapters with detailed descriptions of major syndromes (cross-referenced with diagnoses); and Part III features a molecular factors index that includes a complete description of each known gene associated with a familial cancer syndrome Contains updated chapters with newly classified GI, neurology, multiple organ, eye, endocrine, GYN, and kidney tumors, as well as more than 20 entirely new chapters covering recently recognized syndromes Incorporates up-to-date molecular findings and their significance for familial cancer syndromes; new techniques and technologies being used to discover gene mutations and other alterations; and details on personalized medicine targeted to specific genes Features more than 2,200 images throughout, including clinical and radiological images, algorithms, graphics, gross pathology, histology, and a wide range of special and immunohistochemical stains—all carefully annotated to highlight the most diagnostically significant factors Features time-saving bulleted text, key facts in each chapter, an extensive index, and numerous tables for quick reference and thorough understanding
Author : Henrik S. Thomsen
Publisher : Springer Science & Business Media
ISBN 13 : 3540727841
Total Pages : 240 pages
Book Rating : 4.5/5 (47 download)
Download or read book Contrast Media written by Henrik S. Thomsen and published by Springer Science & Business Media. This book was released on 2009-02-14 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: Two years only after the publication of the ? rst edition of “Contrast media – Safety issues and ESUR guidelines” in our book series Medical Radiology in 2006, it appeared that a second edition was urgently needed. The ? rst edition was indeed an exceptional success with our readership and sold out rapidly, but moreover the safety of MR contrast media urgently required a reappraisal after the publication of a new and dramatic adverse reaction to some of the gadolini- based agents: the so called NSF syndrome. I am very much indebted to Professor Henrik S. Thomsen and his academic colleagues from the ESUR Contrast Medium Safety Committee for accepting the task to prepare a second edition of their remarkable book.Within a record short period of time they have been able to complete this fully revised new volume. It offers to the readers a comprehensive overview of all problems related to the use of contrast media in modern radiology and of our latest knowledge and insights in the mechanisms of adverse reactions related to contrast media. It answers all questions that radiologists and referring physicians are confronted with in their daily practice when they consider the administration of these agents to their patients.
