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Hypothalamic-pituitary Development
In recent years dramatic progress has been made in understanding the pathophysiology of pituitary diseases by a combination of experimental studies, molecular genetics and clinical research. This book presents an updated overview of normal and pathological hypothalamic-pituitary development. Several chapters include experimental data and describe brain and facial defects associated with various conditions of pituitary insufficiency. A major part is devoted to the still increasing number of molecular and genetic defects which are responsible for various clinical presentations of pituitary insufficiency: diseases due to genetic defects of growth hormone, TSH, gonadotropins and corticotropin se...
Lessons from Laron Syndrome (LS) 1966-1992
Laron Syndrome (LS) is a disease characterized by resistance to growth hormone (GH) and caused by molecular defects of the GH receptor, leading to a deficiency of insulin-like growth factor-1 (IGF-1) and a significant impairment of growth. The syndrome is a unique human model of a peptide hormone receptor defect and GH-IGF-1 interaction. It offers the opportunity to study the consequences of long-term IGF-1 deficiency and the role of IGF-1 in growth and metabolism. With the recent biosynthesis of IGF-1 and the initiation of IGF-1 therapy, a whole new world of basic biological interactions is opening up. This volume brings together leading researchers in genetics, endocrinology, pediatrics, biochemistry, physiology and pharmacology to summarize what is now known about LS, and to discuss the lessons learned from studying and treating this disease since its initial description in 1966. Special features include the demography of LS, and the first data on the long-term IGF-1 treatment of a large group of patients.
ESPE - the First 50 Years
'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.
New Insights into Autoinflammatory Diseases: From Bench to Bedside
Systemic autoinflammatory diseases (SAIDs) are a growing group of rare disorders caused by dysregulation of the innate immune system leading to episodes of organ-specific and systemic inflammation. Autoinflammation as a distinct disease category was first reported in 1999 as a group of monogenic disorders with resultant activation of the inflammasome and cytokine excess, presenting as periodic fever and inflammation in serous membranes. Since this original description, the focus has shifted considerably to the inclusion of complex multifactorial conditions, and more than 30 associated genes have been identified. Disease severity varies from mild to life threatening. Advances in the understanding of the pathogenetic role of interleukin-1, have opened new promising horizons in the treatment of these patients, and significantly altered disease outcome.
Cilia and Mucus
This book details advances in research regarding cilia, mucus, and mucociliary clearance, examining changes in mucus expression and goblet cell metaplasia, and assessing the ability of the mucociliary system to respond to abnormalities. Recognizes that cilia and dynein arms play pivotal roles in developing mammalian embryos! Examines the rol
