Category: Internal Medicine

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Awareness of lysomal storage disorders needs to be raised and there is very substantial pharmaceutical interest to do so. The disorders are often viewed as obscurities but in fact they are treatable. Enzyme replacement therapy is available for four of the disorders and will be available for a further three disorders in the course of the next year. Substrate reduction therapy is licensed for one of them but in the course of the next 12 months it will be licensed for two others and a new form of substrate reduction therapy is being introduced.

These diseases present to a very wide range of physicians and paediatricians. Gaucher disease may present to orthopaedic surgeons or haematologists with splenomegaly and/or skeletal disease. However, paediatricians see the childhood variants of Gaucher disease and therefore may present it to neurologists. Fabry disease typically does not present in childhood but presents to adult physicians with end organ damage (renal failrure, cardiac disease, stroke, neuropathy, gastrointestinal symptoms). A text book would draw these divergent strands together.

There is substantial scientific interest in these diseases. Gaucher is well recognised as a paradigm of a molecular illness, understood at a basic level which is treatable now with specific therapy and is likely to be treatable with gene therapy within the coming five years. New advances in small molecule therapy – e.g. chaperone treatment, modified antibiotics affecting ribosomal function – are likely to be useful for these diseases in the near future. Trials are already underway. These diseases therefore offer a fabulous platform for teaching modern clinical science from basic genetics right the way through to clinical applications.

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Organized by subspecialty, this case-based review covers all the information students are expected to learn during their internal medicine clerkship. Each topic begins with a brief patient history and a question about the most likely diagnosis or next step in management followed by a discussion of alternative diagnoses and management strategies. The user-friendly approach includes numerous algorithms, images, mnemonics, and tables.

A companion Website will offer the fully searchable text.

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Inflammation of the brain, usually brought on by a viral infection, encephalitis currently poses a grave threat to patients around the world. With the migration of West Nile virus into North America, there is a greater awareness and corresponding need to understand, diagnose, and manage this illness. InEncephalitis: Diagnosis and Treatment, experts discuss advances in diagnostic tools, as well as therapeutic approaches that allow clinicians to better recognize and treat afflicted patients.

Individual chapters address the principal infectious and non-infectious causes of brain inflammation, including paraneoplastic encephalitides―an apparent autoimmune process in patients with malignancies―as well as acute disseminated encephalomyelitis, a post-infectious disorder. The book addresses etiology, epidemiology, and specific issues in diagnosis, pathology, and treatment, including various laboratory methodologies, pathologic changes seen in the different disorders, and diagnosis and management of the seizures that occur quite frequently in these disorders.

With contributions from a group of international experts, the book provides a perspective on this disorder that is both broad and in-depth.

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EDITOR–IN–CHIEF: Clifford J. Rosen , M.D., Maine Medical Center Research Institute, Scarborough, Maine SENIOR ASSOCIATE EDITORS: Juliet E. Compston , M.D., FRCP, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom Jane B. Lian , Ph.D., University of Massachusetts Medical School, Worcester, Massachusetts This comprehensive yet concise handbook is an indispensable reference for the many clinicians who see patients with disorders of bone formation, metabolic bone diseases, or disorders of stone formation. It is also a crucial tool for researchers, students, and all other professionals working in the bone field. In a format designed for quick reference, it provides complete information on the symptoms, pathophysiology, diagnosis, and treatment of all common and rare bone and mineral disorders. New in this edition: detailed coverage of osteonecrosis of the jaw, more in–depth coverage of cancer and bone including new approaches to pathogenesis, diagnosis, and treatment; new approaches to anabolic therapy of osteoporosis; the latest research on Vitamin D; expanded coverage of international topics; more on the genetics of bone mass; and newer imaging techniques for the skeleton. In addition, this edition features a free, online–only appendix of medicines used to treat bone disorders and their availability around the world.

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