Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities

Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities


  • Release: 2017-03-21
  • Publisher: Karger Medical and Scientific Publishers
  • Price: FREE
  • File: PDF, 192 page
  • ISBN: 9783318060256
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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.

The Gene

The Gene


  • Release: 2016-05-17
  • Publisher: Simon and Schuster
  • Price: FREE
  • File: PDF, 608 page
  • ISBN: 9781476733531
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The #1 NEW YORK TIMES Bestseller The basis for the PBS Ken Burns Documentary The Gene: An Intimate History From the Pulitzer Prize–winning author of The Emperor of All Maladies—a fascinating history of the gene and “a magisterial account of how human minds have laboriously, ingeniously picked apart what makes us tick” (Elle). "Sid Mukherjee has the uncanny ability to bring together science, history, and the future in a way that is understandable and riveting, guiding us through both time and the mystery of life itself." –Ken Burns “Dr. Siddhartha Mukherjee dazzled readers with his Pulitzer Prize-winning The Emperor of All Maladies in 2010. That achievement was evidently just a warm-up for his virtuoso performance in The Gene: An Intimate History, in which he braids science, history, and memoir into an epic with all the range and biblical thunder of Paradise Lost” (The New York Times). In this biography Mukherjee brings to life the quest to understand human heredity and its surprising influence on our lives, personalities, identities, fates, and choices. “Mukherjee expresses abstract intellectual ideas through emotional stories…[and] swaddles his medical rigor with rhapsodic tenderness, surprising vulnerability, and occasional flashes of pure poetry” (The Washington Post). Throughout, the story of Mukherjee’s own family—with its tragic and bewildering history of mental illness—reminds us of the questions that hang over our ability to translate the science of genetics from the laboratory to the real world. In riveting and dramatic prose, he describes the centuries of research and experimentation—from Aristotle and Pythagoras to Mendel and Darwin, from Boveri and Morgan to Crick, Watson and Franklin, all the way through the revolutionary twenty-first century innovators who mapped the human genome. “A fascinating and often sobering history of how humans came to understand the roles of genes in making us who we are—and what our manipulatio

Making Sense of Complexity

Making Sense of Complexity


  • Release: 2002-05-24
  • Publisher: National Academies Press
  • Price: FREE
  • File: PDF, 47 page
  • ISBN: 9780309084239
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On April 26-28, 2001, the Board on Mathematical Sciences and Their Applications (BMSA) and the Board on Life Sciences of the National Research Council cosponsored a workshop on the dynamical modeling of complex biomedical systems. The workshop's goal was to identify some open research questions in the mathematical sciences whose solution would contribute to important unsolved problems in three general areas of the biomedical sciences: disease states, cellular processes, and neuroscience. The workshop drew a diverse group of over 80 researchers, who engaged in lively discussions. To convey the workshop's excitement more broadly, and to help more mathematical scientists become familiar with these very fertile interface areas, the BMSA appointed one of its members, George Casella, of the University of Florida, as rapporteur. He developed this summary with the help of two colleagues from his university, Rongling Wu and Sam S. Wu, assisted by Scott Weidman, BMSA director. This summary represents the viewpoint of its authors only and should not be taken as a consensus report of the BMSA or of the National Research Council.