Laron Syndrome - From Man to Mouse


Book Description

Laron syndrome (LS), or primary growth hormone (GH) insensitivity, was first described in 1966. Since then, many patients worldwide have been diagnosed with LS, which involves defects in the GH receptor that cause combined congenital deficiency of GH and IGF-I activities. In this comprehensive book the authors draw upon 50 years of multidisciplinary clinical and investigative follow-up of the large Israeli cohort of LS patients. The genetic basis of the syndrome is fully considered, and all aspects of the pathophysiology of IGF-I deficiency are described. Data derived from the recently generated mouse model of LS are reviewed and compared with the human LS experience. Valuable advice is provided on treatment, and treatment effects, such as metabolic effects, adipose tissue alterations, and impact on aging, are fully explored. Together, this book condenses, consolidates, compares, and contrasts data derived from the human and mouse LS experiences and provides a unique resource for clinical and basic scientists to evaluate and compare IGF-I and GH actions.




Laron Syndrome - From Man to Mouse


Book Description

Laron syndrome (LS), or primary growth hormone (GH) insensitivity, was first described in 1966. Since then, many patients worldwide have been diagnosed with LS, which involves defects in the GH receptor that cause combined congenital deficiency of GH and IGF-I activities. In this comprehensive book the authors draw upon 50 years of multidisciplinary clinical and investigative follow-up of the large Israeli cohort of LS patients. The genetic basis of the syndrome is fully considered, and all aspects of the pathophysiology of IGF-I deficiency are described. Data derived from the recently generated mouse model of LS are reviewed and compared with the human LS experience. Valuable advice is provided on treatment, and treatment effects, such as metabolic effects, adipose tissue alterations, and impact on aging, are fully explored. Together, this book condenses, consolidates, compares, and contrasts data derived from the human and mouse LS experiences and provides a unique resource for clinical and basic scientists to evaluate and compare IGF-I and GH actions.







Growth Hormone Resistance


Book Description

Examining growth hormone resistance, this text includes coverage of such topics as: growth hormone receptor signalling; metabolic actions of growth hormone - direct and indirect; and IGF bioactivity and its modification in growth hormone resistance in childhood.




Murine Models, Energy Balance, and Cancer


Book Description

This volume provides a transdisciplinary and translational review of many of the leading murine models used to study the mechanisms, mediators and biomarkers linking energy balance to cancer. It provides a review of murine models that should be of interest to basic, clinical and applied research investigators as well as nutrition scientists and students that work in cancer prevention, cancer control and treatment. The worldwide obesity pandemic has been extensively studied by epidemiologic and observational studies and even, in some cases, by randomized controlled trials. However, the development and control of obesity, its comorbidities and its impact on cancer usually occurs over such long periods that it is difficult, if not impossible to conduct randomized controlled trials in humans to investigate environmental contributions to obesity, energy balance and their impact on cancer. In contrast, model organisms, especially mice and rats, provide valuable assets for performing these studies under rigorously controlled conditions and in sufficient numbers to provide statistically significant results. In this volume, many of the leading and new murine models used to study the mechanisms and mediators linking cancer with obesity, sleep, exercise, their modification by environment and how they may continue to be used to further elucidate these relations as well as to explore preclinical aspects of prevention and/or therapeutic intervention are considered. This volume provides an important compilation and analysis of major experimental systems and principles for further preclinical research with translational impact on energy balance and cancer.




The Molecular Genetics of Aging


Book Description

The molecular genetics of aging or life-span determination is an expanding field. One reason is because many people would consider it desirable if hu man life span could be extended. Indeed, it is difficult not to be fascinated by tales of the life and death of people who have succeeded in living a very long life. Because of this, we have placed at the head of this book the chapter by Perls et al. on Centenerians and the Genetics of Longevity. Perls and his coauthors convincingly argue that, while the average life expectancy might be mostly determined by environmental factors because the average person has an average genotype, extremely long life spans are genetically determined. Of course, studying humans to uncover the genetics of aging is not ideal, not so much because one cannot easily perform experiments as because they live such a long time. This is why most of this book describes the current state of research with model organisms such as yeast, worms, flies, and mice. J aswinski focuses on yeast and how metabolic activity and stress resistance affect the longevity of Saccharomyces cerevisiae. In the process, he discusses the concept of aging as applied to a unicellular organism such as yeast and the importance of metabolism and stress resistance for aging in all organisms.




Genetic Diagnosis of Endocrine Disorders


Book Description

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 Growth Plate


Book Description

Evidence generated by a number of genetic studies indicates that growth is regulated by a number of genes and that interference with their expression can have catastrophic effects on the well being of the whole organism. This work covers skeletal development and growth.




Encyclopedia of Biomedical Gerontology


Book Description

Encyclopedia of Biomedical Gerontology, Three Volume Set presents a wide range of topics, ranging from what happens in the body during aging, the reasons and mechanisms relating to those age-related changes, and their clinical, psychological and social modulators and determinants. The book covers the biological and medical aspects of gerontology within the general framework of the biological basis of assessing age, biological mechanisms of aging, age-related changes in biological systems, human age-related diseases, the biomedical practicality and impracticality of interventions, and finally, the ethics of intervention. Provides a ‘one-stop’ resource to information written by world-leading scholars in the field of biomedical gerontology Fills a critical gap of information in a field that has seen significant progress in the last 10 years




Manual of Endocrinology and Metabolism


Book Description

Ideal for all health care professionals who evaluate, diagnose, treat, or refer patients with endocrine disease or disorders, Manual of Endocrinology and Metabolism, Fifth Edition, brings together nearly 150 global authorities who share their knowledge and expertise on endocrine disorders in children, adolescents, and adults. Using a concise outline format, this thoroughly updated manual presents clinical information and protocols needed in everyday practice, with an emphasis on diagnosis and treatment. Succinct chapters and an abundance of tables and diagrams make complex information easy to find and understand.