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This book presents a comprehensive overview of pediatric thyroid diseases and thus provides a useful tool for clinical problem solving. Opinion leaders in the field present reviews on all relevant diseases of the hypothalamic-pituitary-thyroid axis. Sixteen chapters cover topics ranging from fetal thyroidology, congenital hypothyroidism, central hypothyroidism, inherited defects of thyroid hormone action, cell transport and metabolism to iodine deficiency, autoimmune thyroid disease and thyroid tumors. Written by clinicians, the chapters provide in-depth information and current guidelines for clinical problems encountered in pediatric thyroidology. As a unique feature, a case seminar collection for each chapter presents typical patient histories providing key learning points and key references for clinical problem solving in family medicine, pediatric endocrinology and medical genetics. Providing a succinct update on clinical pediatric thyroidology, this book is an essential tool for pediatric and adult endocrinologists, as well as for general practitioners, pediatricians and medical geneticists.
This book illustrates the activities of mammalian sirtuin SIRT6 in connection with DNA damage repair and premature aging. It mainly presents research on the nuclear lamin A, notably the upregulation of p53 and acetylation etc. Taken together, these studies reveal the various regulatory roles of SIRT6, which are of substantial biological relevance in DNA damage repair, aging and longevity, and can have significant implications in devising therapeutic strategies to combat age-associated pathologies. Given its scope, the book offers a valuable resource for students and researchers in the fields of genetics, cell biology, molecular biology etc.
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
This book describes recent advances in biomarkers, instrumentation and analysis methodology for identifying drug misuse. It is aimed at healthcare professionals, academics and postgraduates.
Ten years ago a group of experts assembled in Chicago to develop a consensus on the management of conditions previously described as intersex. The consequences of this consensus have been far reaching, including a change in nomenclature, the development of greater collaboration across geographical boundaries, and a move towards greater involvement of patients and parents. Moreover, an international registry was established, as well as research and clinical networks. This book brings together a thorough overview on all these topics. Furthermore, the major technological advances in diagnostic genetic and biochemical capabilities over the past 10 years are outlined in detail. Offering a comprehensive update on various aspects of disorders of sex development (DSD), this book will be essential reading to all clinicians who are involved in delivering health care to patients with a DSD, as well as scientists involved in biomedical research related to DSD.
Puberty is a unique paradigm for the understanding of gene-environment interaction and developmental programming. Therefore, normal and abnormal pubertal development can be divided and examined in three sections: the role of genetic factors, the role of environmental factors (including nutrition) and therapeutic issues in disorders of puberty. Dealing with all of these sections and framed along current key concepts in pediatric endocrinology, experts share their view on critical issues such as weighting of genetic versus environmental factors or the impact of environmental factors in relation to critical periods in development. Not only showing the consensus and controversial issues in the v...
There has been a rapid expansion of knowledge in the field of paediatric calcium and bone disorders over the past twenty years. Advances have been made in the underlying genetic basis for many conditions in conjunction with progress in bone density and geometry imaging and the development of new treatment options. The 2nd revised edition of ‘Calcium and Bone Disorders in Children and Adolescents’ presents up-to-date information on many aspects included in the 1st edition such as the physiology, pathology, diagnosis and management of numerous conditions including a chapter of case histories illustrating clinical aspects. New chapters on skeletal dysplasias, the genetics of osteoporosis, radiological imaging of bone and a practical approach to a child with recurrent fractures are included. Providing a comprehensive update, this book is a useful clinical resource for paediatricians and specialists in endocrinology, metabolic bone disease, nephrology, rheumatology, radiology, orthopaedics and clinical genetics who may be faced with a child with a calcium and/or bone disorder.
Cellular-molecular approach to evolution has led to radical changes in our understanding of biologic principles ranging from the Cell, to the Life Cycle, Development, Homeostasis, Senescence/Aging, Heterochrony, Pleiotropy, Phenotype, and perhaps the purpose of life itself. Much of this new way of thinking about biology and medicine emanates from experimental evidence for epigenetic inheritance. This leads one to question whether our unicellular state is the actual primary level of selection. One particular system that is now recognized as being under the auspices of epigenetic inheritance is the endocrine system, which is conventionally thought to regulate physiologic homeostasis. However, ...
This book covers the entire spectrum of thyroid diseases in childhood, focusing on the recent advances that have been achieved, from progress in basic science research through to novel or improved approaches to diagnosis and treatment. Introductory chapters discuss thyroid embryogenesis and the role of thyroid hormones in fetal development. The two contrasting forms of thyroid dysfunction, hypo- and hyperthyroidism, are then considered in depth, with particular attention to the molecular causes of congenital hypothyroidism. Among the other topics addressed are autoimmune thyroiditis, thyroid nodules, and pediatric neoplasms. The book concludes with an overview of promising therapeutic approaches, such as stem cell therapy. Each topic is treated by an eminent expert in the field, ensuring consistently high quality. Thyroid Diseases in Childhood will be an important source of information for endocrinologists, pediatricians, oncologists, and gynecologists, as well as other professionals interested in this topic.