Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
Page : 6338 pages
File Size : 38,82 MB
Release : 2001
Category : Genetic disorders
ISBN : 9780071363198
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author : David B. Vodusek
Publisher : Elsevier
Page : 518 pages
File Size : 15,86 MB
Release : 2015-05-21
Category : Medical
ISBN : 0444632549
The neurology of sex and bladder disorders requires specialized knowledge and represents a challenge for clinical neurologists focused on the neurological condition. Sex and bladder disorders are often related to more general neurological disorders like Parkinson's disease and multiple sclerosis, and often the sex and bladder disorders are passed to specialists in urology. Neurology of Sexual and Bladder Disorders: Handbook of Clinical Neurology is a focused, yet comprehensive overview that provides complete tutorial reference to the science, diagnosis and treatment of sex and bladder disorders from a neurologic perspective. - Comprehensive coverage of the neurology of sex and bladder disorders - Details the latest techniques for the study, diagnosis and treatment of sex and bladder dysfunction from a neurological perspective - A focused reference for clinical practitioners and neurology research communities
Author : Maria M. Picken
Publisher : Humana Press
Page : 536 pages
File Size : 27,53 MB
Release : 2015-08-17
Category : Medical
ISBN : 3319192949
The second edition of this text presents an overview of the most recent developments in this area including clinical presentation, etiology, pathogenesis, and differential diagnosis. The rationale for various therapies, including transplantation, is discussed and tissue diagnosis (its pitfalls and strategies for avoiding them) and laboratory support are included. The involvement of all major organ systems including renal/genitourinary, cardiac, gastrointestinal, pulmonary, peripheral nerve/central nervous system, soft tissue, skin, lymph node/spleen and bone marrow pathology is also covered. Amyloid and Related Disorders, Second Edition will be invaluable to specialized and general pathologists as well as cytopathologists. Other medical professionals may also benefit from this concise update on the systemic amyloidoses.
Author : V. Planté-Bordeneuve
Publisher : Elsevier Inc. Chapters
Page : 39 pages
File Size : 36,80 MB
Release : 2013-08-17
Category : Medical
ISBN : 0128078693
TTR FAP is characterized by phenotypic and genotypic heterogeneity. The severity of polyneuropathy along with autonomic dysfunction and heart involvement makes it a life-threatening disease. This protein is mainly produced by the liver. Molecular genetic testing is essential in the diagnostic strategy. TTR-Val30Met is the most frequent substitution, resulting in a guanine to cytosine mutation in exon 2 of the gene. It is virtually the only variant detected in Portugal, Brazil, and Sweden. By contrast, as many as 30 different TTR variants are reported in Japan and in other European countries. A less severe phenotype with late onset has been reported. Diagnosis should be performed as early as possible since upcoming pharmacological therapeutic approaches are now available, in addition to liver transplantation.
Author : Petros Efthimiou
Publisher : Springer
Page : 324 pages
File Size : 22,72 MB
Release : 2019-01-04
Category : Medical
ISBN : 3319969293
This book provides an overview of auto-inflammatory syndromes, covering the underlying immune mechanisms that lead to their development, specific disease presentations, and clinical treatment guidelines. The book is divided into two sections, adult and pediatric, with chapters focusing on individuals diseases such as systemic arthritis, hyper-IgD, pap syndrome, idiopathic recurrent pericarditis, and familial Mediterranean fever. Chapters incorporate the most recent advances in disease pathophysiology and examine the underlying inductive and effector mechanisms and therapies that relate to each auto-inflammatory disorder at the genetic, molecular, cellular, and epidemiologic levels. The book also discusses the research behind auto-inflammatory disorders to offer detailed clinical guidelines regarding diagnostic techniques, treatment plans, and advice on how to best transition pediatric patients into adult treatment. This is an invaluable reference on auto-inflammatory syndromes for clinicians and researchers in pediatric and adult rheumatology and immunology.
Author : Morie A. Gertz
Publisher : Springer Science & Business Media
Page : 243 pages
File Size : 40,73 MB
Release : 2010-06-14
Category : Medical
ISBN : 1607616319
An up-to-date reference on this fascinating set of complex disorders, this book features the most comprehensive strategies for diagnosing, classifying, imaging, treating, and managing amyloidosis in multiple organ systems. Beneficial to the spectrum of practitioners from residents to sub-specialists, this book is a succinct authoritative text written by leaders in the field. The authors provide instruction on all forms of amyloidosis - including primary amyloidosis (AL), secondary amyloidosis (AA), and familial amyloidosis. With essential treatment algorithms, Amyloidosis: Diagnosis and Treatment is the gold-standard for all hematologists, oncologists, and internists caring for patients with this complex disease.
Author : Sung-Tsang Hsieh
Publisher : Springer
Page : 193 pages
File Size : 18,17 MB
Release : 2019-04-08
Category : Medical
ISBN : 981133546X
This book provides comprehensive coverage of small fiber neuropathy (SFN), from diagnosis to therapy. It focuses on nerve degeneration and neuropathic pain, and their underlying pathology, physiology, psychophysics, genetics and imaging. In particular, this book describes and discusses the major advances in diagnostic techniques for assessing SFN. These include skin biopsy, evoked potentials, quantitative sensory testing and functional studies, as biomarkers of SFN. SFN is a common peripheral nerve disorder, but was often overlooked due to a lack of objective and specific diagnostic tests for the assessment of small nerve fibers. These fibers mediate thermal sensation, pain detection (nociception), and autonomic regulation. Major symptoms of SFN include neuropathic pain, impaired sensation and autonomic dysfunction. Neuropathic pain poses a diagnostic challenge to clinicians, an essential step for selecting appropriate treatment to relieve suffering. SFN frequently develops in systemic diseases such as diabetes mellitus, following chemotherapy, infections etc., or presents as a major feature of various genetic neuropathies (e.g. channelopathy and familial amyloidosis). In addition to describing these conditions which lead to SFN, this book also describes related syndromes of neurodegeneration and pain, including fibromyalgia, visceral pain and hypersensitivity. This definitive book covers both clinical aspects and research progress, which provides in-depth and up-to-date information on SFN. It would be immensely useful for clinicians, neurologists, neuroscientists, diabetologists, and pain specialists. Dr. Sung-Tsang Hsieh is a professor at Department of Neurology and Institute of Anatomy and Cell Biology, College of Medicine, National Taiwan University, Taiwan. He is also the associate dean of College of Medicine, National Taiwan University, Taiwan. Dr. Praveen Anand is a professor at Department of Clinical Neurology and head of Centre for Clinical Translation, Hammersmith Hospital, UK. Dr. Christopher Gibbons is an associate professor of Neurology, Harvard Medical School, Beth Israel Deaconess Medical Center, USA. Dr. Claudia Sommer is a professor of Neurology at the Department of Neurology, Würzburg University Hospital, Germany.
Author : Marco Matucci-Cerinic
Publisher : Springer Science & Business Media
Page : 397 pages
File Size : 42,14 MB
Release : 2013-09-11
Category : Medical
ISBN : 1461478499
Rheumatologic diseases are highly associated with clinical symptoms of the skin, nails, and mucosal membranes. This book provides the practicing rheumatologist with a rapid, easy to consult reference to help interpret the nature of these cutaneous lesions and then quickly decide upon the appropriate follow-up tests. Utilizing an abundance of informative photographs, it contains all of the essential information needed for early diagnosis and treatment. This comprehensive guide properly orients the practitioner within the challenging world of rheumatologic disorders of the skin and gives insight into when consultation with a dermatologist is advisable.
Author : Einar M. Sigurdsson
Publisher : Springer Science & Business Media
Page : 390 pages
File Size : 28,37 MB
Release : 2008-02-02
Category : Science
ISBN : 1592598749
A proven collection of readily reproducible techniques for studying amyloid proteins and their involvement in the etiology, pathogenesis, diagnosis, and therapy of amyloid diseases. The contributors provide methods for the preparation of amyloid and its precursors (oligomers and protofibrils), in vitro assays and analytical techniques for their study, and cell culture models and assays for the production of amyloid proteins. Additional chapters present readily reproducible techniques for amyloid extraction from tissue, its detection in vitro and in vivo, as well as nontransgenic methods for developing amyloid mouse models. The protocols follow the successful Methods in Molecular BiologyTM series format, each offering step-by-step laboratory instructions, an introduction outlining the principle behind the technique, lists of the necessary equipment and reagents, and tips on troubleshooting and avoiding known pitfalls.
Author : Jaime C. Paz
Publisher : Elsevier Health Sciences
Page : 529 pages
File Size : 16,85 MB
Release : 2013-10-04
Category : Medical
ISBN : 0323227538
- NEW! Restructured table of contents helps you quickly locate information. - NEW! Language from the International Classification of Functioning, Disability, and Health (ICF) model adopted by the American Physical Therapy Association increases your familiarity with terminology. - NEW! New intervention algorithms along with existing algorithms break clinical decision-making into individual steps and sharpens your on-the-spot critical-thinking skills. - NEW! A quick-reference appendix covering abbreviations commonly found in the acute care environment supplies the translation tools you need, while flagging any abbreviations that may be harmful to the patient.