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Diagnosis of human peroxisomal disorders
Peroxisomal disorders constitute a major research front in clinical genetics, paediatrics and cell biology. Since 1983, the metabolic defect in some 20 different peroxisomal disorders has been described. The best known conditions include Zellweger syndrome, rhizomelic chondrodysplasia punctata and X-linked adrenoleukodystrophy and, in the most recent edition of The Metabolic and Molecular Basis Inherited Disease, edited by Scriver and colleagues, more than 100 pages are now devoted to the subject. Progress in our understanding of these conditions, and their diagnosis, results from the application of a variety of laboratory investigations. These include microscopic studies, analysis of metabo...
Complementary and Alternative Approaches to Biomedicine
WHAT HAPPENED IN KANAZAWA? THE BIRTH OF eCAM This book contains the proceedings of the International Symposium on Complementary and Alternative Medicine, (CAM) which was convened in Kanazawa Japan, November 8-10, 2002. The participants were mainly from Japan, USA, China, France, England, Germany, Taiwan, and India. The world of western medicine is gradually opening its doors to new ways of ap proaching healing. Since many of these approaches began centuries and even millennia ago in Asia, it was entirely appropriate to open our symposium in Kanazawa, a beautiful, traditional city located on the Sea of Japan. Experts from Asia, Europe and the United States gathered together for true discussio...
Post-Genomic Perspectives in Modeling and Control of Breathing
Post Genomic Perspectives in Modeling and Control of Breathing is comprised of the proceedings of the IXth Oxford Conference on Modeling and Control of Breathing, held September 13-16, 2003 in Paris, France. This publication is placed within the general framework of post-genomic neurobiology, pathology, and the precise example of the rhythmic respiratory neural assembly being used to understand how genetic networks have been selected and conserved in the vertebrate brain. Specific topics include: ion channels and synapses responsible for respiratory rhythmogenesis and plasticity; pre- and post-natal development of the respiratory rhythm; chemosensory transduction and chemo-afferent signalling. These valuable insights open new avenues as to why the genetic codes underlying a vital function such as breathing have been selected, conserved, or optimized during evolution – a major issue of post-genomic biology. This critical issue will be considered from both top-down and bottom-up integrative modeling standpoints, with a view to elucidating the functional genomics linking discrete molecules to the integrated system that regulates breathing.
Hypoxia
The International Hypoxia Symposium convenes biannually to bring together international experts from many fields to explore the state of the art in normal and pathophysiological responses to hypoxia. Representatives from five continents and 32 countries joined together in February 2003 for four days in the dramatic mountains of Banff, Alberta. As editors of the Proceedings of the International Hypoxia Symposia, we strive to maintain a 26 six year tradition of presenting a stimulating blend of clinical and basic science papers focused on hypoxia. Topics covered in 2003 include hibernation and hypoxia, hypoxia and fetal development and new advances in high altitude pathophysiology, oxidative stress and membrane damage, hypoxic regulation of blood flow, heat shock proteins in hypoxia, and future directions in hypoxia research. In 2003 we also had the privilege ofhonoring John W. Severinghaus as a friend, colleague, mentor and inspiration to many in the field. Tom Hornbein's personal tribute to John Severinghaus is the first chapter in this volume, followed by an entertaining update of the history of the discovery of oxygen written by John Severinghaus.
Advances in Systems Biology
This book is based on the proceedings of the inaugural symposium "Northwest Symposium for Systems Biology". Particular focus is on identifying current breakthrough technologies and their application to important model systems. By integrating computational sciences, high-throughput technologies and quantitative biology, this book will advance the understanding of not just the function of individual genes, proteins and smaller molecules like hormones, but also how all of these molecules interact within a cell. This volume will be a collection of presentations on four topics that comprise the scope of the Genomes to Life project recently announced by the Department of Energy. They are four aspects of a system biology approach to understanding microbial communities. These topics include complex microbial systems, gene regulatory networks, molecular machines/ multiprotein complexes and computational techniques.
Hot Topics in Infection and Immunity in Children
Hot Topics in Infection and Immunity in Children brings together leading experts in the field to provide a current and authoritative view concerning the hottest topics of concern to clinicians caring for children with infections and research scientists working in the areas of infectious disease, immunology, microbiology and public health. The book is based on a collection of manuscripts from a faculty of authors of international standing who contributed to a course in Paediatric Infection and Immunity in Oxford, UK in June 2003.
Hypospadias and Genital Development
This book focuses on the current basic science research of hypospadias and genital development. Congenital anomalies of the genitalia are the second most common birth abnormality besides congenital heart defects. Genital anomalies come in many varieties with the most common abnormality being hypospadias. The etiology of hypospadias remains unknown and the incidence is doubling in western countries with no definable explanation. It therefore seems especially germane to study this common congenital anomaly with a baseline incidence of 1/125-250 newborn males.
Oxygen Transport to Tissue XXV
The 30th scientific meeting of the International Society on Oxygen Transport to Tissue (ISOTT) was held at the Western Conference Centre, UMIST, Manchester, in August 2002. It was attended by some 96 delegates and accompanying persons and there were 128 presentations.
Brain Death and Disorders of Consciousness
Although some decades have passed, there are still worldwide controversies about a concept of human death on neurological grounds. There are also disagreements on the diagnostic criteria for brain death, whether clinical alone or clinical plus ancillary tests. Moreover, some scholars who were strong defenders of a brain-based standard of death are now favoring a circulatory-respiratory standard. The study of coma is extremely important because lesions of the brain are responsible for quality of life in patients or cause of death. The main goal of Brain Death and Disorders of Consciousness is to provide a suitable scientific platform to discuss all topics related to human death and coma.
Peroxisomal Disorders and Regulation of Genes
In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.
