Congenital Hyperinsulinism

This unique book is a practical guide for the clinician faced with the challenge of diagnosing and managing neonates, infants and children with congenital hyperinsulinism (HI), within the framework of pathophysiology and molecular genetics. Major advances have been made in HI research over the past two decades, and with this better understanding of the molecular genetics of HI, a “personalized” approach to management according to the type of hyperinsulinism, and particularly according to the likelihood of focal hyperinsulinism, is starting to emerge. The opening chapter discusses HI diagnosis using biochemical approaches and phenotype characterization. The various forms of HI are then presented in detail in three main categories: diazoxide-responsive, diazoxide-unresponsive and syndromic HI. Both medical and surgical management strategies are then discussed, covering imaging, histology, surgical approach, and post-operative management. Complications, such as feeding problems, and long-term outcomes, such as neurodevelopmental issues, are carefully considered in the final chapter. Practical and user-friendly, Congenital Hyperinsulinism is the go-to resource for pediatric endocrinologists, residents and fellows, general pediatricians and neonatologists.

Molecular mechanisms, clinical manifestations and new treatments In this volume of 'Frontiers in Diabetes' dealing with the molecular basis of monogenic disease of beta-cell insulin regulation, world-renowned experts provide in-depth descriptions of the many recent advances in genetic defects that cause hyperinsulinemic hypoglycemia. These disorders comprise the most important form of hypoglycemia in infants and children and are associated with a high risk of morbidity, including seizures and severe brain injury. The discovery of eight different genetic loci involved in congenital hyperinsulinism has led to greatly improved methods of diagnosis and treatment. New approaches to diagnosis are highlighted, such as 18F-DOPA PET scans for preoperative localization of focal hyperinsulinism, as well as potential new treatments, such as green tea polyphenols for GDH-HI and GLP- receptor antagonists for SUR1 and Kir6.2 hyperinsulinism. Practitioners, including pediatricians and specialists in endocrinology, surgery, genetics, pathology, and radiology, will find important up-to-date information for clinical diagnosis, management, and new treatments for infants and children with congenital hyperinsulinism. Researchers will discover how genetic hyperinsulinism disorders provide novel insights into the basic mechanisms regulating insulin secretion not only in diabetics, but also in healthy humans.

Thoroughly revised and updated, the New Edition of this definitive text explains how to care for neonates using the very latest methods. It maintains a clinical focus while providing state-of-the-art diagnosis and treatment techniques. Written by more than 55 specialists who are actively involved in the care of sick newborns, it serves as an authoritative reference for practitioners, a valuable preparation tool for neonatal board exams, and a useful resource for the entire neonatal care team. Focuses on diagnosis and management, describing pertinent developmental physiology and the pathogenesis of neonatal problems.Includes over 500 crisp illustrations that clarify important concepts and techniques. Features the contributions of new editor Christine Gleason, a well-known neonatologist specializing in fetal physiology and drug/alcohol effects on the brain.Discusses hot topics such as ethical decisions in the neonatal-perinatal period * maternal medical disorders of fetal significance, seizure disorders, isoimmunization, cancer and mental disorders * maternal and fetal anesthesia and analgesia * prenatal genetic diagnosis * overview of clinical evaluation of metabolic disease * neonatal pain in the 21st Century * immunology of the fetus and newborn * wonders of surfactant * long-term neurological outcomes in children with congenital heart disease * developmental biology of the hematologic system * and illustrative forms and normal values: blood, CSF, urine.Features extensive cross-referencing, making it quick and easy to navigate through the organ-related sections.Includes coverage of perinatology-providing a well-rounded, comprehensive approach to patient care.Presents case studies designed to help readers recognize and manage cases in the office setting and asses their understanding of the topic.

This book provides a comprehensive guide for nurses practicing in any area of endocrinology and at any level of expertise. Endocrinology Nursing is a fast-developing specialty with nurses performing advanced roles and expanding their practice to run independent nurse-led services. Supported by the European Society of Endocrinology (ESE) and edited by members of the ESE Nurses Working Group, this is the first book ever published specifically for endocrine nurses. It is also an excellent resource for endocrinology specialty trainees, general practitioners, medical and nursing students, expert patients and nurses working in specialties such as fertility, osteoporosis, oncology, obesity, urology and gynaecology, who look after patients with endocrine-related disorders. This volume includes 13 sections and 69 chapters providing a comprehensive overview of adult and paediatric endocrinology but also a section on advanced practice, role development and nursing research. It has been written by an international team of more than 100 eminent nurses, physicians, surgeons, psychologists and other healthcare professionals, which makes this book a valuable resource for any multidisciplinary team. Many patient advocacy groups have contributed with case studies which emphasises the close working relationships with patients.

Dr. Siegel's definitive reference on pediatric body CT is now in its Second Edition—thoroughly revised to reflect the latest techniques and the growing use of CT for pediatric patients. Chapters provide detailed, practical protocols for cardiac, vascular, thoracic, abdominal, pelvic, and musculoskeletal imaging and thoroughly describe and illustrate normal anatomy and pathologic findings. The book contains over 1,100 images obtained with state-of-the-art technology, including many three-dimensional images. This edition's new chapter on cardiac and vascular imaging demonstrates the utility of CT as a powerful diagnostic tool for cardiac anomalies. A full-color insert depicting vascular and cardiac anomalies is also included. A companion Website offers the fully searchable text and a full-color online image bank. (www.pediatricbodyct.com)

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