Download or read book Gaucher s Disease written by Lunawati L. Bennett and published by . This book was released on 2020-07-13 with total page 169 pages. Available in PDF, EPUB and Kindle. Book excerpt: "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.

Download or read book Gaucher Disease written by Anthony H. Futerman and published by CRC Press. This book was released on 2006-07-07 with total page 553 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Download or read book Understanding Gaucher Disease written by Carol Kari and published by . This book was released on 1990 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Legacy written by Harry Ostrer MD and published by Oxford University Press. This book was released on 2012-08-10 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Postgraduate Orthopaedics written by Paul A. Banaszkiewicz and published by Cambridge University Press. This book was released on 2012-08-16 with total page 301 pages. Available in PDF, EPUB and Kindle. Book excerpt: The must-have book for candidates preparing for the oral component of the FRCS (Tr and Orth).

Download or read book GAUCHER DISEASE written by and published by . This book was released on 2020 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Gaucher Disease written by Marian E. Beratan and published by . This book was released on 1995 with total page 48 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Pulmonary Vascular Disorders written by Marc Humbert and published by Karger Medical and Scientific Publishers. This book was released on 2012 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Rare Diseases written by Meral Özgüç and published by Springer. This book was released on 2014-09-08 with total page 219 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Imaging of Arthritis and Metabolic Bone Disease E Book written by Barbara N. W. Weissman and published by Elsevier Health Sciences. This book was released on 2009-05-09 with total page 770 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Gaucher s Disease 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 20 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gaucher's Disease: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Sphingolipidoses in a compact format. The editors have built Gaucher's Disease: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Sphingolipidoses 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 Gaucher's Disease: 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 Gaucher Disease 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 27 pages. Available in PDF, EPUB and Kindle. Book excerpt: Gaucher Disease: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Gaucher Disease in a compact format. The editors have built Gaucher Disease: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Gaucher Disease 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 Gaucher Disease: 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 Musculoskeletal Imaging written by Felix Chew and published by Lippincott Williams & Wilkins. This book was released on 2012 with total page 594 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Inherited Cardiac Disease written by Perry Elliott and published by Oxford University Press, USA. This book was released on 2011-05-26 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inherited Cardiac Disease provides healthcare specialists involved in the diagnosis and treatment of inherited cardiovascular disorders with a clinically relevant summary of genetic diseases and readily accessible information that can be used in everyday practice.

Download or read book Andrews Diseases of the Skin written by William D. James and published by Elsevier Health Sciences. This book was released on 2019-01-18 with total page 1109 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now in a fully revised thirteenth edition, Andrews’ Diseases of the Skin remains your single-volume, must-have resource for core information in dermatology. From residency through clinical practice, this award-winning title ensures that you stay up to date with new tools and strategies for diagnosis and treatment, new entities and newly recognized diseases, and current uses for tried-and-true and newer medications. It’s the reference you’ll turn to again and again when faced with a clinical conundrum or therapeutically challenging skin disease. Utilizes a concise, clinically focused, user-friendly format that clearly covers the full range of common and rare skin diseases. Provides outstanding visual support with 1,340 illustrations – more than 500 new to this edition. Presents comprehensively updated information throughout, including new and unusual clinical presentations of syphilis, new diagnostic classifications and therapies for vascular anomalies, and an updated pediatric and genodermatosis review. Covers new and evolving treatments for inflammatory, neoplastic, and blistering skin diseases among others. New biologics and phosphodiesterase inhibitors for psoriasis and atopic dermatitis, JAK inhibitors for alopecia areata and vitiligo, immune checkpoint inhibitors for melanoma and rituximab for pemphigus are all covered. Features a revised and revamped cutaneous adverse drug reaction section, including novel eruptions from new and emerging chemotherapeutic agents and small molecule/targeted inhibitors. Discusses new and emerging viruses including Zika and human polyomaviruses.

Download or read book Atlas of Pediatric Hepatology written by Deirdre Kelly and published by Springer. This book was released on 2018-05-15 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’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