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 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 My Life and Thoughts with Tuberous Sclerosis Complex written by Robin Hudson and published by . This book was released on 2015-08-10 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: this book is about a woman born with tuberous sclerosis complex and ADHD. She had a front right lobectomy at the age of 5.
Download or read book Every Life Has Value Tuberous Sclerosis Complex Awareness written by MD Eyasin Ali and published by . This book was released on 2019-11-09 with total page 102 pages. Available in PDF, EPUB and Kindle. Book excerpt: This beautiful Notebook For Women and Men To Write In and inspirational gift idea for Tuberous Sclerosis Complex Awareness patients and survivors to write down their Disease Journey or to keep track of doctor's appointments, treatment. Writing is a great stress reliever, as well as a way to cope with your thoughts, feelings, and fears about Tuberous Sclerosis Complex. It will also give survivors a chance to look back on their journey and recall their fight. This journal will give patients motivation to keep going, never give up and never lose hope or faith. This blank lined notebook is a perfect gift for that special person battling the Tuberous Sclerosis Complex.
Download or read book Patients with Tuberous Sclerosis Complex TSC Have a Life Expectancy of 31 2 Years and a 5 fold Increased Standardized Mortality Rate Both of which Were Worsen in the Late Disease Onset Group Associated with Renal Diseases written by Jui-Hui Peng and published by . This book was released on 2017 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Tuberous sclerosis complex (TSC) is an autosomal dominant disease with development of multiple hamartomas in brain, kidney, and skin. The death may result from massive renal bleeding or other comorbidities. We have previously reported the prevalence and incidence of TSC. However, the impacts of TSC on the mortality rate and life expectancy are unknown. From year 1997 to 2001, we followed up 471 patients of TSC in Taiwan. The result showed that 14 (9 males and 6 females) of 471 patients (3.0%) were dead during the follow up (median death age at 32.6 years). The further analysis showed that onset age (10.8 vs 30.6 years) was significantly higher in alive than in dead patients. The life expectancy of TSC patients is estimated to be 31.2, 31.1, 15.8, and 5.4 years among the age group of 1, 1-20, 21-40, and 60 years old, respectively. Based on the population data, the standardized mortality ratio (SMR) is 4.99 (2.34-7.60) folds higher in TSC patients than that in general population. The young onset age group showed a higher mortality rate than the old age onset group (14.05 vs 1.96 per 1000 person years). The occurrence of dementia (13.5% vs 3.2%) and renal diseases (14.7% vs 2.2%) are significant higher in the old than that in young age onset group. The Kaplan-Meier analysis validated that late onset to the enhanced mortality and its association of renal diseases and dementia. In summary, the life expectancy is lower in patient with TSC (31.2 years) and the standardized mortality ratio is 5-fold increased. The increased mortality in the late onset group may result from renal diseases and dementia related illnesses. The early diagnosis and the vigilance of renal involvement and dementia may render favorable disease survival in TSC.
Download or read book Living with tuberous sclerosis written by and published by . This book was released on 1999 with total page 212 pages. Available in PDF, EPUB and Kindle. Book excerpt: A compilation of 26 biographies and 6 autobiographies of children and adults living normal lives despite having tuberous sclerosis.
Download or read book Every Life Has Value Tuberous Sclerosis Awareness written by MD Eyasin Ali and published by . This book was released on 2019-11-09 with total page 102 pages. Available in PDF, EPUB and Kindle. Book excerpt: This beautiful Notebook For Women and Men To Write In and inspirational gift idea for Tuberous Sclerosis Awareness patients and survivors to write down their Tuberous Sclerosis Journey or to keep track of doctor's appointments, treatment. Writing is a great stress reliever, as well as a way to cope with your thoughts, feelings, and fears about Tuberous Sclerosis. It will also give survivors a chance to look back on their journey and recall their fight. This journal will give patients motivation to keep going, never give up and never lose hope or faith. This blank lined notebook is a perfect gift for that special person battling Tuberous Sclerosis.
Download or read book Tuberous Sclerosis written by J. C. Lagos and published by . This book was released on 1967 with total page 24 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Tuberous Sclerosis New Insights for the Healthcare Professional 2013 Edition written by and published by ScholarlyEditions. This book was released on 2013-07-22 with total page 54 pages. Available in PDF, EPUB and Kindle. Book excerpt: Tuberous Sclerosis: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Additional Research in a concise format. The editors have built Tuberous Sclerosis: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Additional Research in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Tuberous Sclerosis: New Insights for the Healthcare Professional: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
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 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 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 New Insights for the Healthcare Professional 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 43 pages. Available in PDF, EPUB and Kindle. Book excerpt: Tuberous Sclerosis: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Tuberous Sclerosis in a concise format. The editors have built Tuberous Sclerosis: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Tuberous Sclerosis in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Tuberous Sclerosis: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
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 Atlas of Acquired Cardiovascular Disease Imaging in Children written by Randy Ray Richardson, MD and published by Springer. This book was released on 2016-10-13 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt: This atlas is a concise visual guide to the imaging of acquired heart disease in infants, children, and adolescents. Imaging plays an ever-increasing vital role in diagnosis, preoperative planning, and postoperative management for children with these disorders. The book reviews techniques for lowering radiation, discusses protocols for imaging in children, and provides recommendations for the most appropriate studies that decrease the time and cost of imaging these patients. Focusing on functional and anatomic imaging with an emphasis on three-dimensional color-coded models derived from CT and MR scans, this book promotes understanding of cardiovascular disorders in children, including infectious, neoplastic, and metabolic diseases. Atlas of Acquired Cardiovascular Disease Imaging in Children is a valuable resource through which cardiologists, radiologists, pediatric cardiothoracic surgeons, and residents can improve the quality and treatment of pediatric and adolescent patients with acquired heart disease.
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.
