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Author: Lunawati L. Bennett
Publisher:
ISBN: 9781536180237
Category : Cerebrosides
Languages : en
Pages : 169
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Book Description
"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: Lunawati L. Bennett
Publisher:
ISBN: 9781536180237
Category : Cerebrosides
Languages : en
Pages : 169
Get Book Here
Book Description
"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: Anthony H. Futerman
Publisher: CRC Press
ISBN: 1420005502
Category : Medical
Languages : en
Pages : 553
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Book Description
In 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: Marc Humbert
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805599145
Category : Medical
Languages : en
Pages : 300
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Book Description
An 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: Harry Ostrer MD
Publisher: Oxford University Press
ISBN: 0199702055
Category : Medical
Languages : en
Pages : 300
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Book Description
Who are the Jews--a race, a people, a religious group? For over a century, non-Jews and Jews alike have tried to identify who they were--first applying the methods of physical anthropology and more recently of population genetics. In Legacy, Harry Ostrer, a medical geneticist and authority on the genetics of the Jewish people, explores not only the history of these efforts, but also the insights that genetics has provided about the histories of contemporary Jewish people. Much of the book is told through the lives of scientific pioneers. We meet Russian immigrant Maurice Fishberg; Australian Joseph Jacobs, the leading Jewish anthropologist in fin-de-siècle Europe; Chaim Sheba, a colorful Israeli geneticist and surgeon general of the Israeli Army; and Arthur Mourant, one of the foremost cataloguers of blood groups in the 20th century. As Ostrer describes their work and the work of others, he shows that to look over the genetics of Jewish groups, and to see the history of the Diaspora woven there, is truly a marvel. Here is what happened as the Jews migrated to new places and saw their numbers wax and wane, as they gained and lost adherents and thrived or were buffeted by famine, disease, wars, and persecution. Many of these groups--from North Africa, the Middle East, India--are little-known, and by telling their stories, Ostrer brings them to the forefront at a time when assimilation is literally changing the face of world Jewry. A fascinating blend of history, science, and biography, Legacy offers readers an entirely fresh perspective on the Jewish people and their history. It is as well a cutting-edge portrait of population genetics, a field which may soon take its place as a pillar of group identity alongside shared spirituality, shared social values, and a shared cultural legacy.
Author: Barbara N. W. Weissman
Publisher: Elsevier Health Sciences
ISBN: 0323074685
Category : Medical
Languages : en
Pages : 770
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Book Description
Get 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: Meral Özgüç
Publisher: Springer
ISBN: 9401792143
Category : Science
Languages : en
Pages : 219
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Book Description
This book focuses on predictive, preventative and personalized medicine (PPPM) and how it is related to the healthcare of rare diseases. Readers will discover how advanced rare diseases healthcare provides an excellent “proof-of-principles” for the personalisation of healthcare systems on a global scale. Chapters look at national plans for rare disease, at biobanking, gene identification, rare cancers, virus gene therapy , induced pluripotency for cell therapy amongst other topics. There is a chapter dedicated to personalized medicine for hereditary deafness and another exploring the complexity of genotype-phenotype correlations. Specific diseases such as Fabry's, Gauchers and mitochondrial cytopathies are highlighted and we look at enzyme replacement therapy in lysosomal storage diseases. This work is part of a series, produced with the involvement of the European Association for Predictive, Preventive and Personalised Medicine. The series focusses on the concept of an integrative medical approach by PPPM. This volume is dedicated to all aspects related to the prediction, prevention and personalised treatments of rare diseases, and in doing so it explores developments relevant to all medical branches. The authors cover ethical considerations, the creation of a robust platform for professional communication, synergies with patient organisations, “doctor-patient” collaboration and a new philosophy of integrative medicine by PPPM. This volume serves as a reference source for scientific and medical centres in the field and can be used both at medical curricula and graduate level in the life sciences. Those who place a special emphasis on healthcare promotion and innovations intended to combat rare diseases, save the affected lives and enhance life quality will all find this book of great value.
Author: Felix Chew
Publisher: Lippincott Williams & Wilkins
ISBN: 1609137930
Category : Medical
Languages : en
Pages : 594
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Book Description
Musculoskeletal Imaging, Third Edition, features almost 400 cases drawn from the teaching files of leading medical centers. These practical cases encompass all imaging modalities--including radiography, CT, MR, nuclear medicine, and sonography--as well as all categories of musculoskeletal disease, including trauma, tumors, joint disease, endocrine, metabolic bone disease, and more. Organized by anatomic region, each case follows a consistent format and is presented as an unknown diagnosis with brief clinical history, images, description of findings, differentials, diagnosis, and discussion of care. This format simulates the experience of working through a case with an expert consultant, making Musculoskeletal Imaging an ideal resource for sharpening diagnostic skills for those preparing for board examinations or for reinforcing practical knowledge.
Author: Lawrence F. Eichenfield
Publisher: Elsevier Health Sciences
ISBN: 1455726397
Category : Medical
Languages : en
Pages : 752
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Book Description
Neonatal 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: Paul A. Banaszkiewicz
Publisher: Cambridge University Press
ISBN: 1107627362
Category : Medical
Languages : en
Pages : 301
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Book Description
The must-have book for candidates preparing for the oral component of the FRCS (Tr and Orth).
Author: Deirdre Kelly
Publisher: Springer
ISBN: 3319695290
Category : Medical
Languages : en
Pages : 145
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Book Description
This atlas is a problem-based practical book presenting clinical scenarios for children with liver disease. Each chapter demonstrates the clinical presentation, diagnostic pathway, therapy and outcome. Rich in illustrations of clinical pictures, tables and graphs of data, each chapter also contains pictures of radiology, histopathology and other important diagnostic information. This book outlines a multidisciplinary approach to diagnosis and management of pediatric liver disease and covers diseases encountered in South Asia, the Far East and the Middle East. This work will appeal to a wide readership, from trainees in hepatology and Paediatric Gastroenterology to General Paediatricians and Allied Health Professionals including Dieticians, Nurses, Transplant Co-Ordinators.
