04535nam 22007455 450 991065948480332120251222144921.03-031-17759-210.1007/978-3-031-17759-0(MiAaPQ)EBC7201663(Au-PeEL)EBL7201663(CKB)26155058700041(DE-He213)978-3-031-17759-0(PPN)268209138(EXLCZ)992615505870004120230208d2023 u| 0engurcnu||||||||txtrdacontentcrdamediacrrdacarrierAmyloidosis and Fabry Disease A Clinical Guide /edited by Diane Xavier de Ávila, Humberto Villacorta Junior1st ed. 2023.Cham :Springer International Publishing :Imprint: Springer,2023.1 online resource (483 pages)Print version: Xavier de Ávila, Diane Amyloidosis and Fabry Disease Cham : Springer International Publishing AG,c2023 9783031177583 Includes bibliographical references and index.Description and Purposes: An Overview -- Neurological Manifestations -- Dysautonomy -- Cardiology Manifestations -- Syncope, Arrhythmia and Cardiac Devices -- Urological and Kidney manifestations -- Ophthalmological and Dermatological Manifestations -- Gastrointestinal Symptoms -- Hematological Associations -- Orthopedic Care -- Association of Neoplasms -- Diagnostic tools -- Genetics and Epigenetics -- Treatment -- Clinical Course: An Overview -- Neurological Manifestations -- Cardiology Manifestations -- Kidney manifestations -- Ophthalmological and Dermatological Manifestations -- Gastrointestinal Symptoms -- Diagnostic tools -- Genetics -- Treatment -- Pathology and Differential Diagnosis -- Clinical Research -- The Role of Nursing in Chronic Patient's Care -- Chronic Pain and Quality of Life.This book presents a multispecialty and multidisciplinary approach on Amyloidosis and Fabry disease. These two “rare” diseases are underdiagnosed and have systemic peculiarities that should be emphasized for diagnosis. In both cases, early diagnosis is important for initiating treatment sooner, achieving better prognosis, and improving patients’ quality of life. The history of these patients, in general, involves a long journey among health professionals to obtain a diagnosis. Even after a patient is diagnosed, there are still difficulties in understanding these complex diseases, managing complications, and defining specific treatment. Therefore, this work will be a valuable resource for many healthcare professionals, including physicians of various specialties, nurses, physiotherapists, and medical students. It will also be of interest to patients who would like to understand Amyloidosis and Fabry disease. The content will give healthcare professionals a clinical perspective and provide insights on proper care. Readers will be able to recognize the symptoms related to each disease and will be guided during diagnosis and treatment. Chapters include an overview on clinical course, and will address neurological, ophthalmological, dermatological, gastrointestinal, hematological and cardiology manifestations, orthopedic care, mutations, expressiveness according to epigenetics and multidisciplinary treatment. Chapter authors from around the world have contributed sharing their experience in managing these diseases.CardiologyGastroenterologyHematologyNephrologyNeurologyCardiologyGastroenterologyHematologyNephrologyNeurologyAmiloïdosithubMalaltia de FabrythubLlibres electrònicsthubCardiology.Gastroenterology.Hematology.Nephrology.Neurology.Cardiology.Gastroenterology.Hematology.Nephrology.Neurology.AmiloïdosiMalaltia de Fabry050616.399Xavier de Ávila DianeVillacorta Junior HumbertoMiAaPQMiAaPQMiAaPQBOOK9910659484803321Amyloidosis and Fabry Disease3032453UNINA