Newton's apple: Isaac Newton and the English scientific renaissance

In the aftermath of the English Civil War, the Restoration overturned England's medieval outlook and a new way of looking at the world allowed the genius of Isaac Newton (b. 1642) and his contemporaries to flourish. Newton had a long and eventful life apart from his scentific discoveries. He was born at the beginnings of the Civil War, his studies were disrupted by the twin disasters of the Great Plague and the Fire of London; a brilliant and enigmatic genius, Newton dabbled in alchemy, wrote over a million words on the Bible, quarrelled with his contemporaries and spent his last years as Master of the Royal Mint as well as President of the Royal Society. This book sets Newton's life and work against this dramatic intellectual rebirth; among his friends and contemporaries were Samuel Pepys, the colourful diarist, John Evelyn, the eccentric antiquarian, the astronomers Edmund Halley and John Flamsteed, and Christopher Wren, the greatest architect of his age. They were all instrumental in the founding of the Royal Society and their aim was nothing less than to examine the whole field of scientific knowledge

Malformation syndromes caused by disorders of cholesterol synthesis

Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions. These roles include being a precursor molecule for the synthesis of steroid hormones, neuroactive steroids, oxysterols, and bile acids. Cholesterol is also essential for the proper maturation and signaling of hedgehog proteins, and thus cholesterol is critical for embryonic development. After birth, most tissues can obtain cholesterol from either endogenous synthesis or exogenous dietary sources, but prior to birth, the human fetal tissues are dependent on endogenous synthesis. Due to the blood-brain barrier, brain tissue cannot utilize dietary or peripherally produced cholesterol. Generally, inborn errors of cholesterol synthesis lead to both a deficiency of cholesterol and increased levels of potentially bioactive or toxic precursor sterols. Over the past couple of decades, a number of human malformation syndromes have been shown to be due to inborn errors of cholesterol synthesis. Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol-C-4 methyloxidase-like deficiency, and Antley-Bixler syndrome