Genetic Steroid Disorders - Couverture souple

Couverture souple

ISBN 10 : 0128214244 ISBN 13 : 9780128214244

Editeur : Academic Press, 2023

Synopsis

Genetic Steroid Disorders, Second Edition targets adult and pediatric endocrinologists, clinical geneticists, genetic counselors, reproductive endocrinologists, neonatologists, urologists, and psychoendocrinologists. It is designed to assist these specialists in the diagnosis and treatment of steroid disorders. This revision includes a new chapter on "Gonadotropins, Obesity and Bone" and new research on non-invasive prenatal diagnosis with cell-free DNA. Chapters are thoroughly updated covering steroid disorders, the genetic bases for the disorder and case presentations, This definitive reference belongs in every medical library!

A propos du livre

À propos des auteurs

Dr. New received her Bachelors degree from Cornell University and her Doctor of Medicine degree from the University of Pennsylvania, where she was awarded the Distinguished Graduate Award.

She was Chairman of Pediatrics at Weill Medical College of Cornell University from 1980 to 2002 and Founding Director of its Children's Clinical Research Center, where she also served as Chief of Pediatric Endocrinology from 1964 to 2002.

Dr. Maria New is Professor of Pediatrics, Professor of Genetics and Genomic Sciences, and Director of the Adrenal Steroid Disorders Program at Mount Sinai School of Medicine in New York City. She is also serving as Associate Dean for Clinical Research at the Florida International University Herbert Wertheim College of Medicine.

Former president of the Endocrine Society, Dr. New has edited or co-edited 12 medical textbooks, published more than 600 peer-reviewed papers and served as editor-in-chief of the Journal of Clinical Endocrinology and Metabolism. She has trained more than 100 young physician-scientists who have become chiefs of pediatric endocrinology and leaders in their field.

Her research, clinical work and teaching have taken her around the world. In 2005 and 2006, she led genetics research expeditions to Siberia in collaboration with the School of Medicine, St. Petersburg University, Russia.

Dr. New's contributions have been recognized by her being selected as one of the few pediatricians in the National Academy of Sciences. She has received numerous honors including: the Robert H. Williams Distinguished Leadership Award; the Rhone-Poulenc Rorer Clinical Investigator Award from the American Endocrine Society; the 1996 Dale Medal, the highest award given by the British Endocrine Society; and the 2003 Fred Conrad Koch Award, the highest award given by the American Endocrine Society. In 2010, she received the Van Wyk Prize, the highest award given in pediatric endocrinology.

She has conducted pioneering research in the area of Congenital Adrenal Hyperplasia, a term used to describe a family of monogenic autosomal recessive disorders of steroidogenesis in which enzymatic defects result in impaired synthesis of cortisol by the adrenal cortex. In addition, Dr. New discovered a new form of hypertension, Apparent Mineralocorticoid Excess, which opened a new field of receptor biology. She was also the first to describe Dexamethasone-Suppressible Hyperaldosteronism, another form of low-renin hypertension. In 1999, she reported what may be the first example of a transcription factor defect in human beings.

Dr. Bert O'Malley was first to discover that nuclear receptors are transcription factors that regulate specific mRNA production in target cells in response to intracellular hormones. He uncovered mechanisms for activating steroid receptors, and discovered the existence of 'coactivators', the 'master genes of transcription that regulate normal and disease functions in reproduction, growth and metabolism. He developed the concept that small molecule drugs can regulate coactivators to produce therapeutic outcomes for diseases such as cancer and heart disease. Dr. O'Malley is the founding father of the field of Molecular Endocrinology and a member of the National Academy of Sciences, National Academy of Medicine, and National Academy of Inventors.

Gary Hammer, MD, PhD serves as Director of the Endocrine Oncology Program in the Rogel Cancer Center at the University of Michigan where he holds the Millie Schembechler Professorship in Adrenal Cancer. The Program is recognized as a worldwide leader in endocrine cancers - exemplified by its recent leadership role in the 3 recent endocrine cancer platforms of the NCI TCGA (papillary thyroid cancer, adrenocortical carcinoma and pheochromocytoma). A worldwide leader in the adrenal community, Dr. Hammer is best recognized for his research in adrenal homeostasis and neoplasia and for the treatment of adrenal cancer. Most recently, Dr. Hammer cofounded Millendo Inc., a biotechnology company focusing on therapies for adrenal cancer and other related endocrine diseases of steroid excess. Dr. Hammer has been the PI or Co-Investigator on several NIH and institutional funded grants.

Oksana Lekarev, DO is the Associate Medical Director of the Comprehensive Care Center for Congenital Adrenal Hyperplasia (CAH) at Weill Cornell Medicine, the first multi-disciplinary center of excellence in the United States dedicated to patients with CAH. She is also an Assistant Professor of Clinical Pediatrics at Weill Cornell Medicine and Assistant Attending Pediatrician at NewYork-Presbyterian/Weill Cornell Medical Center. Dr. Lekarev is board certified in Pediatric Endocrinology and Pediatrics. In addition to her expertise in CAH and adrenal steroid disorders, Dr. Lekarev's areas of interest include disorders of growth, disorders of pubertal and sexual development, and thyroid disease. She has published a number of original and review articles in peer-reviewed journals and has presented her work at national and international meetings.

Alan Parsa trained in adrenal steroid disorders under the mentorship of Dr. Maria New at Mount Sinai School of Medicine in Manhattan, New York. He then completed a fellowship training in endocrinology, diabetes, and metabolism at Cedars Sinai Medical Center in Los Angeles under the mentorship of Dr. Shlomo Melmed. He has authored over 20 peer-reviewed articles and book chapters on multiple topics including adrenal, pituitary, and thyroid conditions. He has a clinical practice in Honolulu and teaches at the John A. Burns medical school. In addition, he currently conducts several ongoing clinical trials.

Détails de l'édition

• Éditeur: Academic Press
• Date d'édition: 2023
• Langue: anglais
• ISBN 10: 0128214244
• ISBN 13: 9780128214244
• Reliure: Broché
• Numéro d'édition: 2
• Nombre de pages: 468
• Éditeur: New
• Coordonnées du fabricant: Academic Press; https://shop.elsevier.com/; ; 230 PARK AVENUE, SUITE 800; NY; NY; 10169; Etats-Unis
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