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Author: Anthony H. Futerman
Publisher: CRC Press
Published: 2006-07-07
Total Pages: 553
ISBN-13: 1420005502
DOWNLOAD EBOOKIn September of 2007 Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition! Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable proto
Author: Lunawati L. Bennett
Publisher:
Published: 2020-07-13
Total Pages: 169
ISBN-13: 9781536180237
DOWNLOAD EBOOK"Gaucher's Disease: From Diagnosis to Treatment" was designed as an educational resource for all professionals involved in the care of patients with Gaucher disease (GD). Chapter 1 is an introduction about GD. GD is the most common autosomal recessive lysosomal storage disease (LSD) due to the deficiency or absence of the activity of enzyme glucosylceramidase (GCase) or also known as acid- glucosidase (GBA1) or uridine phosphate glucosylceramide synthase (UDP-GLC). Defects in these enzymes cause miss-sorting or loss function of lysosomal proteins leading to accumulation of glucocerebroside (GLC) in the tissue macrophages monocyte. Accumulation of GLC cause enlargement of the spleen, destruction of bone, anemia, thrombocytopenia, and abnormalities of the lungs. GD is classified into three types: type 1 GD (GD1) is a chronic and non-neuronopathic accounting for 95% of GD cases, and types 2 and 3 (GD2, GD3) involves nerve cell destruction causing acute brainstem dysfunction or progressive neuroleptic deterioration, respectively. Chapter 1 review disease classification, epidemiology, pathophysiology, and clinical manifestations of GD.Chapter 2 discusses GD diagnosis and clinical presentations from prenatal, newborn, first year of life, childhood, adolescence, and adulthood patients suspected to have GD. Several biomarkers, tools used to detect abnormal biomarkers such as chitotriosidase, pulmonary and activation-regulated chemokines, and other inflammatory markers are discussed, in addition to methods used to detect these biomarkers. Chapter 3 highlights available enzyme replacement therapy (ERT), clinical trials, dosing, and adverse drug reaction of each ERT, pregnancy information, and effect of ERT on endocrine and metabolic profiles. Chapter 4 discusses available substrate reduction therapy (SRT), clinical trials, dosing, adverse drug reaction, pregnancy information, drug-drug interaction and patients' polymorphism profiles that influence the dosing of SRT. Chapter 5 discusses type 2 and 3 GD which are the neuronopathic variants of the GD, genotype and phenotype of the patients, role of ERT or SRT or gene therapy, chaperone therapy, and hematopoietic stem cell transplantation. Chapter 6 discusses common complication of GD such as bone and hepatocellular abnormalities, increased risk of cancer and Parkinson Disease development. Chapter 7 highlights several novel therapies with their mechanisms of action, details regarding ongoing or completed clinical trials such as newer SRT lucerastat which is on clinical trials for possible use in GD3. At this time, there are no drugs available to treat GD2 or GD3. Promising novel therapy include pharmacology chaperone (PC), antioxidants, and gene therapy. There are 2 PCs currently being tested in clinical trial, ambroxol and arimoclomol. Ambroxol, an over the counter drugs has been used to treat various airway infections, showed promising result to cross blood brain barrier that provide promising options for GD3 treatment.
Author: Carla E. M. Hollak
Publisher: Oxford University Press
Published: 2016
Total Pages: 657
ISBN-13: 0199972133
DOWNLOAD EBOOKAs clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Author: Marc Humbert
Publisher: Karger Medical and Scientific Publishers
Published: 2012
Total Pages: 300
ISBN-13: 3805599145
DOWNLOAD EBOOKAn excellent overview of recent advances in diagnosis, classification and treatment The pulmonary circulation is by nature difficult to evaluate for the clinician and a challenge to investigate by radiographic and hemodynamic methods. In recent years, the field has been revolutionized by major improvements in diagnostic approaches and therapies. Tools for the classification, diagnosis, and management of pulmonary embolism and pulmonary hypertension have been developed and optimized, providing clinicians with detailed and updated guidelines. This volume provides the latest information on the fast-growing and challenging field of acute and chronic pulmonary vascular disorders from some of the field's major leaders in research, education, and care. The topics discussed are relevant to chest physicians, thoracic surgeons, nurses, students, and teachers, and a well-balanced mix of contributions ensures that doctors, clinicians, and institutions from all around the world will find the information presented to be both informative and useful to their situations.
Author: Toshitaka Oohashi
Publisher: Springer
Published: 2019-03-13
Total Pages: 343
ISBN-13: 981132977X
DOWNLOAD EBOOKThis textbook uses a case-study approach to present the core principles of biochemistry and molecular biology in the context of human disease to students who will be involved in patient care. The 29 clinical cases have been carefully selected to cover key scientific concepts and some common, and other not so common, diseases. While the principal focus is on topics relating to metabolic disease, further subjects such as connective tissue disorders, neurological disorders, auto-inflammatory disorders, infective diseases, and cancer are also addressed. Each chapter provides a specific patient report that includes the natural history, pertinent clinical laboratory data, physical findings, subsequent diagnosis, and therapy. This is followed by a comprehensive discussion of the normal biochemical processes and reactions pertaining to the case, along with the pathophysiological mechanisms of the disease. Graphical diagrams are provided in each chapter for ease of comprehension.
Author: Marian E. Beratan
Publisher:
Published: 1995
Total Pages: 48
ISBN-13:
DOWNLOAD EBOOKAuthor: Lawrence F. Eichenfield
Publisher: Elsevier Health Sciences
Published: 2014-08-25
Total Pages: 752
ISBN-13: 1455726397
DOWNLOAD EBOOKNeonatal and Infant Dermatology is a unique comprehensive and heavily illustrated reference on the dermatologic diseases of newborns and infants. It includes discussions of common and uncommon conditions seen in infants at birth and in the first few months of life. With over 600 superb photographs of normal and abnormal skin conditions including images of rare conditions, this easily accessible resource is essential for pediatricians, neonatologists, and dermatologists as well as other healthcare professionals involved in the diagnosis and treatment of dermatologic diseases in infants and newborns. - Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. - Get the depth of coverage you need to effectively diagnose skin conditions in neonates and infants. - Expedite effective differential diagnoses with guidance from algorithms, lists, text, boxes and supporting images. - Benefit from the experience of over 60 contributors from around the world lead by Drs. Lawrence F. Eichenfield and Ilona J. Frieden, two of the most important names in the fields of dermatology and pediatrics. - Glean all essential, up-to-date, need-to-know information with new chapters on Papulosquamous and Lichenoid Disorders, Acneiform and Sweat-gland disorders and two individual chapters on Vascular Malformations and Vascular Tumors. - See what to expect and how to proceed with new, high-quality illustrations and photos that provide even more visual examples of abnormal and normal conditions. - Take it with you anywhere! Access the full text, image library, and more online at Expert Consult.
Author: Barbara N. W. Weissman
Publisher: Elsevier Health Sciences
Published: 2009-05-09
Total Pages: 770
ISBN-13: 0323074685
DOWNLOAD EBOOKGet state-of-the-art coverage of the full range of imaging techniques available to assist in the diagnosis and therapeutic management of rheumatic diseases. Written by acknowledged experts in musculoskeletal imaging, this richly illustrated, full-color text presents the latest diagnostic and disease monitoring modalities - MRI, CT, ultrasonography, nuclear medicine, DXA — as well as interventional procedures. You'll find comprehensive coverage of specific rheumatic conditions, including osteoarticular and extraarticular findings. This superb new publication puts you at the forefront of imaging in arthritis and metabolic bone disease — a must have reference for the clinician and imaging specialist. Includes all imaging modalities relevant to rheumatic disease, and applications and contraindications of each, for balanced coverage. Incorporates a user-friendly, consistent full-color format for quick and easy reference. Provides osteoarticular and extra-articular features and findings to show how imaging benefits diagnosis and management of complex rheumatologic conditions. Creates a one-stop shop with comprehensive coverage of imaging for all rheumatic conditions, including metabolic conditions and pediatric disorders. Presents interventional techniques—injections, arthrography, radiofrequency ablation—to create the perfect diagnostic and interventional clinical tool.
Author: Roger N. Rosenberg
Publisher: Elsevier
Published: 2014-10-28
Total Pages: 1465
ISBN-13: 0124105491
DOWNLOAD EBOOKRosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
Author: E. Gilbert-Barness
Publisher: IOS Press
Published: 2017-01-06
Total Pages: 960
ISBN-13: 1614997187
DOWNLOAD EBOOKThe 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
