Let’s see… sunglasses, beach towel, sun cream, big floppy hat… wait a minute – where’s my reading material! Several new texts are due out relating to rare disease medicine, reasearch, diagnostics and treatment. OrphaNews Europe provides a list of some of the exciting new titles recently released, permitting you to place your order in time for summer reading:
Molecular and Cell Biology of Muscular Dystrophy (Molecular and Cell Biology of Human Diseases, No 3) by T. Parker (-ed) provides an account of the breakthroughs achieved in our understanding of the Duchenne/Becker muscular dystrophies and the consequences and ramifications of these advancements. Chapters address recent discoveries in molecular genetics, geno/phenotype, diagnostics, and treatment approaches including dystrophin gene transfer therapy and myoblast transplantation. (Springer; ISBN: 978-0412434402)
Molecular Basis of Pulmonary Disease: Insights from Rare Lung Disorders by F. McCormack, B. Trapnell, and R.J. Panos (-eds) evolves from the premise that rare lung disorder research can enhance the understanding of common pulmonary diseases and disease mechanisms such as fibrosis and emphysema. Mutations in the alveolar type II cell specific protein, SP-C, can lead to pulmonary fibrosis provides evidence that the alveolar epithelium plays a critical role in fibrogenesis, for example. Similiarly, development of premature emphysema in patients with alpha one antitrypsin deficiency provides strong support for the theory of protease/protease inhibitior balance in the pathogenesis of alveolar destruction. A second important premise is that the science in rare lung disease is inherently interesting and can often change with surprising speed. This is related in part to the fact that the genetic basis of many rare lung diseases is now available, providing a unique vantage point for framing research questions. (Humana Press; ISBN: 978-1588299635)
Pulmonary Arterial Hypertension: Diagnosis and Evidence-Based Treatment by R. Barst (-ed). This is the first book dedicated to rare disease pulmonary arterial hypertension. It includes management guidelines, evidence-based treatment algorithms, and the most current information on research and diagnostics. (Wiley; ISBN: 978-0470059722)
Commercializing Successful Biomedical Technologies: Basic Principles for the Development of Drugs, Diagnostics and Devices by Shreefal.S. Mehta. This text guides the reader through the practical aspects of the commercialization process of drug, diagnostic and device biomedical technology covering the spectrum of pharmaceuticals, biotechnologies, medical devices and diagnostics. From the early development process through marketing and sales, the author uses case examples to chart a path through the complex landscape of new product development. With a section on orphan drug development. (Cambridge University Press; ISBN: 978-0521870986)
Neuropsychological Neurology: The Neurocognitive Impairments of Neurological Disorders by A. J. Larner. This text forcuses on the cognitive aspects of neurological conditions, and includes sections on several rare disorders, including motor neurone disease, amyotrophic lateral sclerosis, systemic lupus erythematosus, Behcet disease, Steinert disease, myasthenia gravis, and the neurogenetic diseases. The book presents an outline of the various cognitive domains and how they can be tested. (Cambridge University Press; ISBN-13: 978-0521717922)
Cancer in Children and Young People (Wiley Series in Nursing) by Faith Gibson and Louise Soanes. This new edition encompasses developments in caring for paediatric cancer patients. The book is divided into six sections: Chemotherapy, Haematopoetic Stem Cell Transplantation, General Surgery, Radiotherapy, Late Effects of cancer therapies, and Palliative Care. (Wiley; ISBN-13: 978-0470058671)
Endocrine Manifestations of Systemic Autoimmune Diseases, Volume 9 (Handbook of Systemic Autoimmune Diseases) by S. Walker, L. Jara, and R. Asherson (-eds). Evaluating the role of steroids in autoimmune rheumatic diseases from the basic mechanisms to the clinical involvements, chapters also address pathophysiology, novel therapeutic approaches and clinical aspects of diverse conditions including Turner syndrome, Klinefelter syndrome, SLE and others. (Elsevier Science; ISBN: 978-0444531728)
Molecular Epidemiology of Chronic Diseases by Chris Wild, Paolo Vineis, and Seymour Garte. This book provides an easy-to-use, clearly presented handbook that allows epidemiologists to understand the specifics of research involving biomarkers, and laboratory scientists to understand the main issues of epidemiological study design and analysis. It also provides a useful tool for courses on molecular epidemiology, using many examples from population studies to illustrate key concepts and principles. (Wiley; ISBN: 978-0470027431)
Nord Compendium of Rare Diseases and Disorders. A compendium of comprehensive information on the diagnosis and management of over 1,000 rare diseases and disorders. Revised and expanded, this text includes information on signs, symptoms, etiology, support groups, researchers, and treatments. (Mary Ann Liebert; ISBN: 978-0913113417)
My Child Has Cancer: A Parent’s Guide to Diagnosis, Treatment, and Survival by Della L. Howell. Written by a specialist in paediatric oncology, this guide offers comprehensive information about the 12 types of childhood cancer. This book explains how cancers affect children differently than they do adults, as well as what little is known about the causes, and details the controversies on that subject. Howell explains common procedures and tests before, during, and after therapy, as well as the potential side effects. The author also addresses the issue of emotion--how to find the calm and strength to help the child or teen and be his or her best advocate, how to tell the child the diagnosis, what questions to anticipate, and how to deal with other family members and friends. (Praeger Publishers; ISBN: 978-0275996017)
Hope and Suffering: Children, Cancer and the Paradox of Experimental Medicine by Gretchen Krueger. This narrative explores how doctors, families, and the public interpreted the experience of childhood cancer from the 1930s through the 1970s. Pairing the transformation of childhood cancer from killer to curable disease with the personal experiences of young patients and their families, Krueger illuminates the twin realities of hope and suffering. In this social history, each decade follows a family whose experience touches on key themes: possible causes, means and timing of detection, the search for curative treatment, the merit of alternative treatments, the decisions to pursue or halt therapy, the side effects of treatment, death and dying -- and cure. Recounting the complex and sometimes contentious interactions among the families of children with cancer, medical researchers, physicians, advocacy organizations, the media, and policy makers, Krueger reveals that personal odyssey and clinical challenge are the simultaneous realities of childhood cancer. Of interest to historians, medical practitioners and researchers, and people whose lives have been altered by cancer. (Johns Hopkins University Press; ISBN-13: 978-0801888311)