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This book is dedicated to an update on metabolic disorders and their consequences on the developing nervous system. In the last ten years, major scientific advances in biochemical diagnosis have enabled the identification of many new disease entities, as well as a better classification of clinical symptoms and their correlation to biochemical defects. This volume provides an introduction to basic sciences specifically relevant to this disease group, then focuses on each subgroup in turn: hyperphenylalaninaemias, mitochondrial encephalomyopathies, organic acidoses, urea cycle defects, lysosomal storage and peroxylsomal disorders. Finally, a discussion of long term follow-up and family related issues also reports the results of a four-year research project led by the Mariani Foundation.
This special edition aims to highlight recent breakthroughs or advances, new technologies, or challenges in the field of endocrinology. We, together with the leadership team of Specialty Chief Editors, have identified multiple areas of endocrinology where new discoveries were made recently which have led to new questions and challenges for the future. With this special collection, we hope to further explore the frontiers of endocrinology within and across specialties of endocrinology.
'ESPE - The First 50 Years' tells the story of ESPE’s development from a small club of friends into an international scientific society. The European Society for Paediatric Endocrinology looks back on its history, major steps in the development of this new subspecialty, and how the 30 founders and the generations of scientists who followed them achieved a democratically structured professional organisation. Success in obtaining vital long-term sponsorship from the industry enabled the development of various high-level educational programmes, fellowships, postgraduate schools, international research clusters and the establishment of prestigious scientific awards. In the second part of the book 21 senior ESPE members look back in personal recollections, and tell fascinating stories of their ESPE past. The third part provides a chronological overview with key data, including the most important scientific topics at ESPE’s 50 annual meetings to date, eight of which were international Joint Meetings. These reference overviews of meetings illustrate in detail the impressive development of paediatric endocrinology in Europe and around the world.
With the relative exception of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, paediatric adrenal disorders are rare diseases, usually with an insidious onset and with relevant comorbidities, needing to be properly addressed at patients’ presentation. Moreover, due to the rarity of these disorders, they are not usually recognized at presentation, leading to a potentially harmful diagnostic delay, and may be not considered by clinicians working in non-specialized centres, with poor expertise in managing rare disorders. Furthermore, pediatric adrenal disorders inevitably develop into adult adrenal disorders, requiring a specific attention during in transitional age, in which a family-centered approach should gradually be switched to a patient-centered approach, with different needs and problems to be addressed. In this Research Topic, we aim to review rare forms of paediatric adrenal disorders, with insights in pathogenesis, clinical presentation, diagnosis, and treatment, to offer clinicians a fast-approaching, complete guide to these rare disorders, helping improve knowledge in an often-neglected setting.
Environmental issues are the harmful effects of human activities on the environment. These include pollution, over-population, waste disposal, climate change, global warming, and the greenhouse effect. Various environment protection programs are being practiced at the individual, organizational, and government levels to establish a balance between man and the environment. Eco Survival is a book that talks about the solutions to environmental issues. Nowadays, no field is aloof from ecological problems. Usually, there is a lot of talk about the causes and effects, but lesser think about the solutions. We have made a small effort to put the ecological issues and solutions from this book. Peopl...
Birth defects are one of the major public health concerns in the world, as they cause approximately 20% of infant deaths. Genetic disorders, including chromosome abnormalities and single gene disorders, are the most common causes of birth defects for which there is no efficient treatment. Prenatal genetic screening and diagnosis allow early identification of affected conceptuses and facilitates reproduction planning or counseling. Molecular technologies have developed rapidly in recent years and have been widely used in screening and diagnosis of genetic disorders at all stages of prenatal development (e.g. pre-implantation, embryonic and fetal). However, their performance still needs to be ...
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Extensive work is a result of four year research within the international project Women's Creativity since the Modern Movement, and brings new insights into women in architecture, construction, design, urban planning and landscape architecture in Europe and in the rest of the world. It is divided into eight chapters that combine 116 articles on topics: A. Women’s education and training: National and international mappings; B. Women’s legacy and heritage: Protection, restoration and enhancement; C. Women in communication and professional networks; D. Women and cultural tourism; E. Women’s achievements and professional attainments: Moving boundaries; F. Women and sustainability: City and...