Ectodermal Dysplasias (ED) are a diverse group of genetic disorders characterized by congenital defects of two or more ectodermal structures (e.g., sweat gland, tooth, nail, hair), that count about 100 different manifestations. Therefore, the multidisciplinary aspect is a novel but crucial approach to correctly diagnose and treat this kind of diseases and eventually direct patients to specialized centers. A new classification has been proposed as well as new therapeutic options, such as th...

Stiehm's Immune Deficiencies focuses on immunodeficiencies in children and adults. This book covers the many advances in the study of immunodeficiency. Stiehm's Immune Deficiencies includes 62 chapters covering topics such as newly described syndromes, genetic diagnosis, molecular abnormalities, newborn screening, and current therapies. - Provides practical guidance to practitioners dealing with the day-to-day issues of diagnosis and management of immune deficient patients - Covers both cl...

The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies. It summarizes the advances in molecular and cell biology, biochemistry, and other biological sciences, with an emphasis on their application to this group of muscle disorders and to their clinical implications. Starting with an overview of muscular dystrophies, the book's 16 chapters discuss dystrophinopathies; sarcoglycanopathies; congenital muscula...

Organogenesis of the kidney has been intensely studied for over a century. In recent years advances in molecular techniques have not only made great inroads into exploring the genetic regulation of this complex process but also began to unravel the molecular basis of many forms of congenital kidney disease. This book is a comprehensive study on these findings and the only book available with such in depth coverage of the kidney. - Hundreds of color figures depicting key events in all aspec...

Master the effective evaluation, analysis and management of placental-fetal growth restriction (PFGR), developing strategies to reduce the risk of perinatal mortality and morbidity in patients worldwide. Extensively researched by international experts, this manual provides practitioners with a detailed, hands-on approach to the practical 'pearls' for direct patient management. This authoritative volume advises on matters such as the correct evaluation and management of high-risk patients i...

The number of diagnosed cases of primary immunodeficiency diseases (PIDs) – a group of inborn disorders of the immune system – is growing rapidly, but misdiagnosis or late diagnosis still occurs in a significant number of patients, with serious consequences. This is the second edition of a practical reference textbook on PIDs that has been widely welcomed by scientists and clinicians from around the world. The new edition has been extensively revised to reflect advances in knowledge and in...

Sjögren's syndrome is a chronic autoimmune disease which can cause debilitating fatigue and pain. Diagnosis is often challenging due to the variability of symptoms and severity, and a multidisciplinary approach to management and treatment is required, yet there are few comprehensive resources covering everything clinicians need to know. The Oxford Textbook of Sjögren's Syndrome bridges this gap by offering extensive coverage of system by system manifestations and treatments, as we...

This book reviews the progress made in salivary diagnostics during the past two decades and identifies the likely direction of future endeavors. After an introductory section describing the histological and anatomical features of the salivary glands and salivary function, salivary collection devices and diagnostic platforms are reviewed. The field of “salivaomics” is then considered in detail, covering, for example, proteomics, the peptidome, DNA and RNA analysis, biomarkers, and methods f...

Viral Gastroenteritis: Molecular Epidemiology and Pathogenesis provides a comprehensive review of research on viruses causing acute gastroenteritis in infants and young children, including coverage of rotaviruses, human caliciviruses, astroviruses, enteric adenoviruses, and viruses causing gastroenteritis more rarely. Includes general chapters on gastrointestinal physiology and pathophysiology, gastrointestinal immune mechanisms, immunodeficiencies and host genetics influencing susceptibil...

There have been tremendous strides in cellular transplantation in recent years, leading to accepted practice for the treatment of certain diseases, and use for many others in trial phases. The long history of cellular transplantation, or the transfer of cells from one organism or region of the body to another, has been revolutionized by advances in stem cell research, as well as developments in gene therapy. Cellular Transplants: From Lab to Clinic provides a thorough foundation of the bas...

This book will be of considerable interest to students, practitioners (Doctors, Physiotherapists, and other health care professionals), and researchers who deal with the complex structure of tendons and the need to effectively address tendon disorders. The book is divided into three sections: (1) Basic Biology and Biochemical Markers; (2) Metabolic Disorders; and (3) Novel Therapies. The first section, devoted to the basic biology of tendons, is aimed at those individuals who want to gain ...

Developmental genetic studies of the spine and linkage and family-based association studies have led to recent advances in understanding the genetic etiology of idiopathic, neuromuscular, and congenital forms of scoliosis. The book is written by leaders in genetic and developmental research on scoliosis and developmental studies of the spine.