Pathologists have long recognized that pediatric autopsy requires great care in technique and dissection to ensure that easily overlooked malformations are recognized and accurate diagnoses are made. The highly experienced authors have created a new edition of Handbook of Pediatric Autopsy Pathology, a comprehensive reference guide to the actual performance of the pediatric autopsy and the optimal recognition and interpretation of pathologic findings. The Handbook of Pediatric...

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and ...

How will increased understanding of the human genome affect our ability to diagnose and treat disease? The subject of recombinant DNA technology is no longer limited to the research laboratory; it is being discussed in ever-widening medical circles. Introduction to Molecular Medicine is especially written for the physician who is not a genetics expert but wishes to understand this new science and find entry to the more specialized publications. The first chapters present t...

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, a...

This issue of Immunology and Allergy Clinics of North America, guest edited by Drs. Robert Wood, Pamela Guerrerio, and Corinne Keet, is devoted to Pediatric Allergy. Articles in this issue include: Role of the Environment in the Development of Allergic Disease; Genetics of Allergic Diseases; Optimizing the Diagnosis of Allergic Disorders; Anaphylaxis and Urticaria; Food Allergy: Epidemiology and Natural History; Inner City Asthma; Potential Treatments for Food Allergy; Eosinophilic Esophag...

"Advances in Down Syndrome Research” represents updated research in several areas of Down Syndrome (DS). A new promising animal model of DS is reported and this opens new opportunities to study pathomechanisms and pharmacological approaches as it is more than difficult to carry out studies in humans and the clinical features are highly variable. In terms of biology, cell cycle and stem cell studies and in terms of biochemistry, relevance of studies on a specific protein kinase, channels, t...

This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician...

Primary immunodeficiency diseases (PIDs) are a heterogeneous group of inherited disorders characterized by different defects in the development and function of the immune system. This book aims to increase the clinical awareness and knowledge of practicing clinicians regarding the diagnosis and management of PIDs. In order to achieve this goal, about 90 cases drawn from real life are presented, along with approximately 300 related questions. The selected case reports are the result of the ...

Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogen...

A complete full-color guide to medical laboratory test selection and test result interpretation for disorders and diagnoses specific to pediatric and neonatal populationsLaboratory medicine practiced at a pediatric institution has unique characteristics specific to infants and children, who differ both metabolically and biochemically from adults. Many aspects of laboratory medicine are affected by these differences, from basic, day-to-day operational issues through...

This book provides the reader with up-to-date information on important advances in the understanding of breast cancer and innovative approaches to its management. Current and emerging perspectives on genetics, biology, and prevention are first discussed in depth, and individual sections are then devoted to pathology, imaging, oncological surgery, plastic and reconstructive surgery, medical oncology, and radiotherapy. In each case the focus is on the most recent progress and/or state of the...

To study the phenomenon of disease without books is to sail an uncharted sea. While to study books without patients is not to go to sea at all. Sir William Osler Over a period of five years, the impact of computed tomography (CT) on pediatric neuroradiology at The Hospital for Sick Children, Toronto, has been, as expected, in the assessment of the brain and its abnormalities. Concurrent with this application was the introduction of Metrizamide (Amipaque, Nyegaard & Co. AS, Oslo, Norway), a...