Rare And Uncommon Diseases

This book explores a number of uncommon diseases, including autism, Asperger’s syndrome, carpal tunnel syndrome, Huntington’s disease, systemic lupus erythematosus, psychosis, rabies, psoriasis, and many more. Each disease is explained with regards to its symptoms, diagnosis, causes and treatment. Keywords are also included to provide a quick indication of the chapter. As such, this volume represents important introductory material for pharmacy, medical and dental students, and scholars in all other health sciences subjects.

This book presents detailed case reports of unusual diseases with common symptoms, many of which have emerged in the past decade as a result of nature, advances in medical treatment, and increasing recognition of specific underpinnings of human biology and immunology. These rare diseases must now be considered when the mundane diagnoses do not exactly fit the patient’s clinical history or treatment fails. Some of these diseases include: eosinophilic esophagitis, blastocystis hominis infection, and paromyces allergic fungal sinusitis. Chapters provide in depth clinical examples of a wide range of diseases affecting multiple organ systems. Each case is structured by: a vignette of the case, background / salient features of the case, diagnosis, treatment, key points, and questions to aid in critical thinking. Unusual Diseases with Common Symptoms: A Clinical Casebook is of great interest to practicing physicians and as a teaching resource for students and residents who will one day encounter conditions more complex than they initially appear.

Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging. The Institute of Medicine (IOM) recommends implementing an integrated national strategy to promote rare diseases research and product development.

This book explores serious diseases and disorders that most readers have never heard of, ranging from genetic, infectious, and environmental diseases to autoimmune, idiopathic, and mental disorders. Despite centuries of scientific study and medical research, there are still many human diseases and disorders that remain difficult to manage or are incurable. Some of these maladies are extremely rare, yet, together, they affect a substantial number of people. The 101 Most Unusual Diseases and Disorders examines seldom-seen illnesses, providing high school and college students with an excellent resource for research as well as supplying fascinating reading for general readers interested in diseases and medical science. This book provides clear, easy-to-understand, and scientifically grounded information on the vast number of unusual medical conditions that have been recorded, covering five kinds of diseases and disorders: genetic, infectious, environmental, mental, and "other," which constitutes diseases of autoimmune and unknown origin. Examples of the medical conditions addressed include autoimmune encephalitis, Ebola, kleptomania, Morgellons syndrome, orthorexia, pneumoconiosis, and Prader-Willi syndrome. Selected case studies enable readers to better empathize with the experiences of those who have these disorders and how these afflictions have affected their lives.

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians

Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. Understanding the complex steps in the development of common diseases, such as cancer, cardiovascular disease, and metabolic diseases, has proven a difficult problem. Rare diseases, however, are often caused by aberrations of a single gene. In rare diseases, we may study how specific genetic defects can trigger a series of events that lead to the expression of a particular disease. Often, the disease process manifested in a certain rare disease is strikingly similar to the disease process observed in a common disease. This work ties the lessons learned about rare diseases to our understanding of common ones. Chapters covering the number of common diseases are minimized, while rare diseases are introduced as single diseases or as members of diseases classes. After reading this book, readers will appreciate how further research into the rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases, rare or common. Makes rare diseases relevant to clinicians and researchers by tying lessons learned about the rare diseases to our understanding of the common diseases Stresses basic pathologic mechanisms that account for human disease (e.g., disorders of cell development, replication, maintenance, function and structure), that can be understood without prior training in pathology Discusses advanced concepts in molecular biology and genetics in a simple, functional context appropriate for medical trainees and new researchers Offers insights into how further research into rare diseases may lead to new methods for preventing, diagnosing, and treating all diseases.

Your awareness of uncommon diseases and possible complications is vital to successful anesthetic patient management. Anesthesia and Uncommon Diseases, 6th Edition, brings you up to date with new information on less commonly seen diseases and conditions, including the latest evidence and management guidelines. This unique medical reference book is essential for a complete understanding of today’s best options and potential difficulties in anesthesia. Improve your ability to successfully manage every patient, including those with rare diseases or conditions. Avoid complications with unique coverage of an important aspect of anesthetic management. Stay current with all-new chapters on adult congenital heart disease, rheumatic diseases, and the cancer patient, plus many more revisions throughout. Get outstanding visual guidance with hundreds of illustrations, now in full color.

The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years, the role of the patient advocacy groups has evolved into a research partner with the academic research community and the bio-pharmaceutical industry. Unique approaches to research and development require epidemiological data not previously available to assist in protocol study design and patient recruitment for clinical trials required by regulatory agencies prior to approval for access by patents and practicing physicians.