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Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities
This volume, written by renowned experts, provides complete coverage of the main genetic conditions associated with diabetes. Divided into five sections, it offers insights into genetic defects involving the pancreatic beta cell, extreme insulin resistance, ciliopathies, obesity and glucose metabolism, chromosomal defects, and other genetic conditions associated with increased susceptibility to diabetes. Other topics include the various subtypes of monogenic diabetes, such as the neonatal form and the Wolfram syndrome, as well as chromosomal defects leading to complex conditions affiliated with diabetes, like Trisomy 21 or Prader-Willi syndrome. There are also chapters dedicated to the poorly explored relationships between metabolism and neurodegenerative disorders like Friedreich’s ataxia and muscular dystrophy. This book is a reference for every pediatric and adult endocrinologist and diabetologist, even experienced ones, with an interest in the intricacies and protean aspects of disorders of glucose metabolism secondary to genetic diseases.
Neonatal and Early Onset Diabetes Mellitus
This comprehensive volume collects contributions by leading experts on neonatal diabetes. It provides the reader with the most up-to-date information about all the progresses that have been made and that have led to the clarification of the pathogenesis of all the forms of diabetes. From pathogenesis to novelty in therapy, the book will cover all aspects of the diagnosis and treatment also discussing rare forms of early onset diabetes, insulin therapy, pump therapy and technologies, acute and chronic complications. The volume is enhanced by videos showing the impact of treatments on movement difficulties, psychomotor development, and muscle tone. Slide decks with key messages are also available for download and usage during congresses and lessons. This book will be of benefit to pediatricians, endocrinologists, neonatologists and all physicians who deal with neonates affected by this disease
Research into Childhood-Onset Diabetes
This book offers a detailed update on research into diabetes with onset in childhood or adolescence. The coverage ranges from fundamental aspects such as study design and statistical analysis through to new ideas for research, the latest research findings, and implications of these findings for clinical care in childhood. Examples of topics addressed in this context include the prevention of diabetic complications, management of micro- and macrovascular complications, the roles of nutrition and exercise, insulin therapy, islet transplantation, and risky behaviors in teenagers. Attention is also focused on the latest technologies, including the artificial pancreas and continuous glucose monit...
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.
Insulin-like Growth Factors
During the past decade, the continued interest in insulin-related growth factors has been documented by a plethora of research programs and publications focused on these growth factors. Both molecular and cellular biological techniques have improved and enabled investigators to study the properties of the growth factors in depth. This volume covers the molecular (genetic) aspects of the growth factors, their binding proteins and receptors, as well as those factors affecting their gene transcription and translation. In addition, aspects of the cellular action of these growth factors through their receptors and how this impacts normal cellular function are discussed. The book will provide valuable information for researchers in physiology, biology, endocrinology, and metabolism.
Molecular Biology of Diabetes
In a rapidly evolving and extremely important area of medical science, it is often difficult for the student, teacher, and researcher to keep abreast of all the important advances. The purpose of Molecular Biology ofDiabetes, Parts I and II is to bring to these individuals the latest knowledge of diabetes-related research in a comprehensive, yet concise manner. To this end, we have assembled chapters, written by most of the world's experts in the field, that we believe compre hensively survey and synthesize a coherent understanding of the subject. Studies of the etiology of type I and type II diabetes are extremely exciting and essential, since we hope to one day prevent the disease using ge...
Genetic Diagnosis of Endocrine Disorders
Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. - Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases - Teaches the essentials of the genetic basis of disease in each major endocrine organ system - Offers expert advice from genetic counselors on how to use genetic information in counseling patients - Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing
The Problem of Childhood Hypoglycemia, volume II
Hypoglycemia in infants and children is common and is caused by a number of sources. Childhood hypoglycemia has the potential to cause brain damage leading to lifelong neurodisability. However, definitions and clinical management of hypoglycemia remain variable, given uncertainty over thresholds of harm and absence of robust clinical evidence for appropriate treatment. It is important to synthesize our current understanding of the etiology of mild and severe forms of hypoglycemia to formulate treatment strategies that are effective and cause minimal harm.
Handbook of Endocrine Research Techniques
Written by experts in the field, Handbook of Endocrine Research Techniques is currently the only single source of up-to-date methods and strategies particularly useful in endocrinological research. As a resource for both the novice and experienced investigator, the book includes chapters which provide an introduction to the area, general concepts, detailed protocols, and extensive references.
