BACKGROUND Previous reports of chromosomal aberrations in different forms of congenital diaphragmatic hernia have been described as comprising aneuploidies (for example, trisomy 21), microdeletions, and duplications (for example, monosomy 15q24, 22q11.2). CASE PRESENTATION We describe the first association of a de novo partial tetrasomy 4q35.2 in a father with left-sided, isolated renal agene...

Leonardo da Vinci was born on the 15th of April, 1452, during the great "rebirth" the Renaissance. He was born in the country village of Vinci, which lies high up on the Mount Albano, in the valley of the river Arno, dividing Florence from Pisa. This lovely village remains un-spoilt today. He was the son of Caterina, a peasant girl. He was illegitimate. His father, Ser Piero da Vinci, the son o...

André, and some of the art dealers of the time. They visited him frequently and brought interesting people with them such as Rodin and Matisse, who visited Cagnes-sur-Mer a couple of times (fig 17). His cook and his chauffeur were devoted to him. The cook carried him in her arms around the house or garden, and his chauffeur drove him everywhere until the last months of his life, stopping at all...

BACKGROUND The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease. Here we describe the novel and unusual mutation (p.T1048I) in the ATP7A gene of a child with Menkes disease. The mutation affects a conserved DKTGT1048 phosphorylation ...

T he events narrated by Shakespeare in his tragedy Hamlet 1 are the following: King Hamlet of Denmark dies suddenly and his brother Claudius a few weeks later marries the widow, his sister-in-law, Queen Gertrude; according to the official explanation, a snakebite was the cause of his death. The ghost of the king appears before his son, Prince Hamlet, and tells him that his own brother, now his ...

An ancient Buddhist story I tells of a young mother who took her baby son to the pond of the sage Mahosadha to bathe him. A ghoul, watching from a distance, assumed the form of a woman and approached the mother and son, asking if she might play with the child. The ghoul took the child in her arms, singing softly to it. All of a sudden the ghoul ran off with the child, while the mother pursued, ...

Urinary lithiasis and gout were uncommonly prevalent in the eighteenth century. This essay considers the history of both afflictions and especially tells of the last illnesses of Sir Robert Walpole, who died from complications of stone, and his son, Horace, who throughout his life was a sufferer of gout.