Inborn Errors Of Skin Hair And Connective Tissue
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| Author | : J.B. Holton |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 285 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 9401166153 |
Following the pattern of previous years the 11th symposium of the S.S.I.E.M. held in the beautiful sylvan surroundings of Sussex Univ ersity, concentrated on a relatively small section of the field of inborn errors. The subject chosen-Inborn Errors of Skin, Hair and Con nective Tissue, was a highly topical one. Intensive research during the last few years particularly on the structure and disorders of connective tissue has considerably advanced our knowledge on this subject. We believe that the range of diseases covered, and the depth in which they were discussed, made this meeting unique. The proceedings contain much original material and reference information which should make them an invaluable addition to the literature on metabolic disorders. The work involved is multi-disciplinary involving among others physicists, organic chemists, biochemists, clinical chemists, paedia tricians, physicians, geneticists and neurologists. The bringing together of workers of many disciplines to contribute to the particular subject under discussion at our Symposia has always been an important objective of the Society. In this case we were very fortunate in gathering together experts from all the fields mentioned above. In particular we were honoured that Professor A. Dorfman of Chicago could accept our invitation to give the second Milner Lecture. We were also privileged to have some excellent contributions from the research scientists on whom we must rely for our ultimate understanding of the diseases, and rational approach to treatment.
| Author | : National Clearinghouse for Human Genetic Diseases (U.S.) |
| Publisher | : |
| Total Pages | : 580 |
| Release | : |
| Genre | : Human genetics |
| ISBN | : |
| Author | : F. Güttler |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 394 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 9401161976 |
The rapid growth of immunology has greatly increased our understanding of disease; this growth has also generated a subject which at times appears separated from some of the basic medical sciences. Recent studies in the areas of purine metabolism and of polymorphonuclear neutrophil phago cyte function have, however, linked immunology and clinical medicine with biochemistry. The precise defects of the inborn errors of metabolism have now provided good evidence for the importance of purine metabolism specifically the enzymes adenosine deaminase and nucleoside phosphorylase in lymphocyte function. In view of this and the steady advance of clinical and biochemical investigation of the polymorphonuclear neutrophil phago cyte, it appeared timely to review the inborn errors of immunity and phagocytosis at the fifteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism at Elsinore, Denmark on September II-14th, I~77. The papers presented at that meeting form the basis of this volume which brings together contributions from immunologists, biochemists and clinicians. This interdisciplinary communication should be helpful to those concerned with immune function in their patients or in the laboratory. The book is divided into four sections, One: defects of cell-mediated immunity, Two: enzyme defects and immunodeficiency, Three: disorders of non-specific immunity and Four: screening for immunodeficiency. Section One contains two reviews, one on immunodeficiency from Robert Good's group in New York and another on the genetics of the immune system from Arne Svejgaard of Copenhagen.
| Author | : F. Cockburn |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 298 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 940097325X |
| Author | : D. Burman |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 426 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 9400992157 |
The sixteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism was held in Bristol from 12th to 14th July, 1978. About 25 invited speakers and 150 participants came from many parts of Europe and North America to consider the topic, 'Inherited Disorders of Carbohydrate Metabolism'. Although some aspects of these disorders have formed part of the programme of previous symposia organized by the Socie ty, this was the first attempt to discuss them in a systematic manner. The subject, carbohydrate disorders, embraces both familiar and well documented conditions and some lesser known aspects of genetic disease. In all of these there remains much to be learnt about clinical and laboratory diagnosis, treatment, biochemical screening and pathogenesis. Thus one aim of the Society, to combine clinical and scientific interest, can rarely have been better achieved in a single symposium. Since the programme included diseases from six different areas of car bohydrate metabolism and contained so many distinguished speakers, it is impossible to highlight the more important aspects of this symposium within a short space. Each section made a notable contribution to knowledge and, when time was available, lively discussions ensued which have been recorded in the book. However, we wish to mention our two special lectures, because they recognise people to whom the Society owes a great deal. The Milner lecture has been given for the past 6 years as a tribute to Mr J.
| Author | : C. Toothill |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 384 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 9400973160 |
Many clinical problems of transport have been known for decades, par ticularly those disorders involving the liver and kidney. As a result of the dramatic increase in interest in transport at the membrane level the Society devoted its Seventeenth Symposium, held at Leeds during September 1979, to Transport and Inherited Disease, the result of that meeting forming the basis of this monograph. For the occasion over a hundred members and guests of the Society were joined by many invited speakers from Europe and the USA to discuss this rapidly developing field with special reference to the direct interests of the Society - in herited metabolic disease. The major theme of the meeting was opened with formal scientific presentations on membrane structure, synthesis and the regulation of epithelial transport. These were followed by discussions of specific prob lems of transport in brain, kidney and red blood cells. Almost all of these later lectures had clinical applications with cystic fibrosis and nephro genic diabetes insipidus featuring as examples of the common inherited diseases. The Hudson Memorial Lecture was delivered by Professor H. Bickel (Heidelberg). This outstanding review lecture on 'Phenylketonuri- past, present and future' is reproduced in the Journal of the Society - the Journal of Inherited Metabolic Disease (Volume 3 No.4, pp.123-132). xiii xiv PREFACE The members' papers (both oral and poster) are also being reprinted in various issues of the Journal (published by MTP Press Ltd., Lancaster, UK).
| Author | : R. Angus Harkness |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 213 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 9401166277 |
The use of cultured cells in the clinical diagnosis of hereditary metabolic dis ease is a rapidly developing subject to which many different disciplines have brought their expertise and knowledge. A number of scientists who have in dividually contributed to the growth of the subject gave invited papers at the Fourteenth Symposium of the Society for the Study of Inborn Errors of Metabolism in the University of Edinburgh on 13-16th July, 1976. These papers form the basis of this monograph which brings together contributions from the basic sciences and from physicians concerned primarily with human disease. The cross-fertilization produced by this interdisciplinary communica tion was invaluable to those trying to understand and overcome diagnostic problems posed by hereditary metabolic disease. Cell culture methods and cell preservation techniques were described by D. G. Harnden and D. E. Pegg; Dr T. Elsdale outlined some of the factors which control in vitro cell growth and division. Cell culture methods and cryopreser vation techniques have allowed the wide distribution of biochemically abnor mal cells and their study over long periods of time. It is also evident that when a defect which produces severe metabolic disorder in man can be studied in the laboratory using isolated cell cultures a wide variety of investigative procedures can be focused on to the cellular defect without distress or discomfort to the patient or relatives.
| Author | : D.N. Raine |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 309 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 9401161739 |
The study of inherited metabolic disease became a subject of more than academic interest in 1953 when Bickel, Gerrard and Hickmans dis covered that the totally disabling consequences of phenylketonuria could be prevented if treatment was instituted in the first months of life. This required the widespread screening of all newborn babies and 7 years later this had been successfully achieved in the United King dom. The next 10 years was a period of consolidation: screening methods were improved and extended to include other disorders; treatment of phenylketonuria was vastly improved with the stimulus of the increasing numbers of patients being detected, and research into new forms of therapy for some of the other disorders being detected has been initiated. The success of this scheme is illustrated by the remarkable achievement reported by the Phenylketonuria Registry referred to in the present volume. But at what cost has this progress been made? It is unnecessary to discuss the financial cost for many of the developments would not have been started if their economic value in the system of health care had not been unequivocally established.
| Author | : Guido Majno |
| Publisher | : Oxford University Press |
| Total Pages | : 1037 |
| Release | : 2004-08-26 |
| Genre | : Medical |
| ISBN | : 0199748926 |
This book lays out the principles of general pathology for biomedical researchers, grad students, medical students, and physicians, with elegance and deep insight. Disease processes are explained in the light of malfunctions at the cellular level, offering a rich understanding of the clinical correlates of all aspects of fundamental cellular physiology and basic biomedicine. The book has been fully revised and updated to present a current but deep understanding of disease states at the cell and tissue levels - cellular pathology, inflammation, immunopathology vascular disturbance, and tumor biology.
| Author | : Constantin E. Orfanos |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 1159 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 3642746128 |
Hair is the subject of this book, including the anatomy of the hair follicle, developmental stages, analyzed by light and electron microscopy, hair ultrastructure, nerve and blood supply, specialized hairs and hair organs, and a review of the present techniques to cultivate hair follicle cells in vitro. In the clinical part several chapters describe the most important diseases and possibilities for treatment. Hair care products and their toxicology are the subject of further sections. Extensive reviews of the antiandrogens, a most important group of drugs influencing hair growth, and of their clinical use in conditions such as androgenetic alopecias and hirsutism are included as well. Finally, surgical techniques for hair transplantation are discussed. This book is a standard textbook for everything pertaining to hair under normal and pathological conditions.
