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:
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.
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.
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.
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.
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.
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.
Download or read book Surviving Tuberous Sclerosis written by Nuel Nenji and published by Independently Published. This book was released on 2023-12-23 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Tuberous sclerosis, also referred to as tuberous sclerosis complex (TSC), is an uncommon genetic disorder that can affect multiple organ systems. It is characterized by the development of benign tumors, or hamartomas, in a number of organs, including the brain, epidermis, kidneys, heart, eyes, and lungs. These tumors are composed of abnormal cells that proliferate and divide uncontrollably, but they are typically benign and do not disseminate to other organs. Mutations in the TSC1 or TSC2 genes, which regulate cell growth and proliferation, cause tuberous sclerosis. When these genes are mutated, they cease to function properly, resulting in the growth of malignancies in the affected organs. Diagnostic criteria for tuberous sclerosis consist of clinical symptoms and genetic testing to identify mutations in the TSC1 or TSC2 genes. The treatment options for tuberous sclerosis seek to manage and alleviate the disorder's particular symptoms and complications. These may include medications to control seizures, when necessary, surgical removal of lesions, and therapies to address developmental and behavioral difficulties. Since tuberous sclerosis is a genetic disorder, it can be inherited from a parent who possesses a mutated TSC1 or TSC2 gene, but it can also arise spontaneously in individuals without a family history of the condition. Affected individuals and their families are frequently advised to seek genetic counseling in order to better understand the risks of transmitting the condition to future generations and to make informed decisions about family planning. Tuberous sclerosis patients can substantially improve their quality of life through early diagnosis and intervention.
Download or read book Neurogenetics Part II written by and published by Elsevier. This book was released on 2018-01-29 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
Download or read book One in a Million Navigating Life with Tuberous Sclerosis Complex written by Daniel Melehi and published by Independently Published. This book was released on 2023-05-14 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: One in a Million - Navigating Life with Tuberous Sclerosis Complex is a compelling and inspiring book that sheds light on the realities of living with a rare disease. This insightful guide illuminates the challenges and struggles faced by those living with Tuberous Sclerosis Complex (TSC) and offers practical advice on how to navigate life's many obstacles. From managing symptoms to coping with the emotional impact of a rare disease, this book provides readers with the tools they need to thrive in the face of adversity. Written by a TSC patient and advocate, One in a Million is a comprehensive and compassionate guide that offers hope and encouragement to those struggling with TSC. With its insightful advice, practical tips, and inspiring stories, this book is a must-read for anyone affected by TSC, as well as their loved ones and caregivers. Whether you are facing a recent diagnosis or are a long-time TSC patient, One in a Million is the ultimate guide to living your best life with this rare disease.
Download or read book Beyond the Diagnosis written by Dr Abigail Morrison and published by Independently Published. This book was released on 2024-06-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: "Beyond the Diagnosis: Navigating Life and Science with Sclerosis" Title: Beyond the Diagnosis: Navigating Life and Science with Sclerosis Subtitle: A Comprehensive Guide to Understanding, Managing, and Thriving with Sclerosis Authors: Dr. Sylvester Dylan, Dr. Abigail Morrison, and Joseph D. Johnson, PhD "Beyond the Diagnosis: Navigating Life and Science with Sclerosis" is an essential guide for anyone affected by sclerosis, providing a comprehensive look at the science, management, and personal experiences associated with this complex group of diseases. Authored by leading experts Dr. Sylvester Dylan, a cardiologist, Dr. Abigail Morrison, a neurologist, and researcher Joseph D. Johnson, this book offers a wealth of knowledge and practical advice designed to empower patients, caregivers, and healthcare professionals alike. In-Depth Exploration of Sclerosis: Understand the different types of sclerosis, including Multiple Sclerosis (MS), Amyotrophic Lateral Sclerosis (ALS), Systemic Sclerosis (SSc), Lichen Sclerosis, Primary Lateral Sclerosis (PLS), Tuberous Sclerosis Complex (TSC), Medial Sclerosis, and Multiple System Atrophy (MSA). Learn about the causes, risk factors, symptoms, and diagnostic criteria for each type of sclerosis. Discover the latest research and future directions in the field, highlighting promising advancements in treatment and management. Practical Management Strategies: Explore medical management and treatments, from pharmacological interventions and rehabilitation therapies to surgical options and emerging treatments. Gain insights into complementary and alternative therapies, including herbal remedies, mind-body therapies, acupuncture, chiropractic care, and dietary interventions. Find practical advice on managing symptoms, navigating healthcare systems, and adapting daily routines to enhance quality of life. Emotional and Psychological Support: Address the emotional and psychological challenges associated with sclerosis, with strategies for coping, building resilience, and seeking professional support. Learn the importance of building a support network, maintaining relationships, and pursuing passions and goals despite the diagnosis. Gain inspiration from real-life stories and personal journeys of individuals who have thrived despite their diagnosis. Future Planning and Advocacy: Navigate the complexities of legal and financial planning, ensuring that you and your loved ones are prepared for the future. Discover how to advocate for yourself and others, participating in advocacy efforts to raise awareness and support for sclerosis-related issues. Stay informed about the latest research, clinical trials, and innovations in the field, with a focus on improving outcomes and finding a cure. Additional Resources: - Utilize templates and tools for tracking symptoms and progress, maintaining a medication and treatment log, and preparing questions for healthcare providers. - Access a glossary of key terms and concepts, as well as a curated list of additional reading and references, including books, articles, journals, support organizations, and online communities. "Beyond the Diagnosis: Navigating Life and Science with Sclerosis" is more than just a medical guide; it is a companion for the journey, offering hope, support, and a path to thriving with sclerosis. Whether you are newly diagnosed, a long-time patient, a caregiver, or a healthcare professional, this book provides the information and encouragement needed to navigate life beyond the diagnosis.
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.
Download or read book Neurocutaneous Syndromes in Children written by Paolo Curatolo and published by John Libbey Eurotext. This book was released on 2006 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 disgnosis. They include a large group of neurological disorders which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures and psychiatric problems. In the last few years, our knowledge of neurocutaneous syndromes has increased substantially. The aim of this volume is to provide an updated developmental perspective on these multifaceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols and novel therapeutic approaches.
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.
Download or read book A Review of Tuberous Sclerosis Complex with Differential Diagnosis written by Tuberous Sclerosis Alliance and published by . This book was released on 2005* with total page 34 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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
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.
