| Hunter syndrome | <syndrome> A recessive mucopolysaccharidosis, also designated mucopolysaccharidosis II, caused by a deficiency of the enzyme iduronate sulphate sulphatase which breaks down dermatan sulphate and heparen sulphate and consequently, the mucopolysaccharides accumulate in the cells of the body and cause damage. Symptoms are treated as they appear. Hunter syndrome is the most common of the mucopolysaccharide disorders. In its severe form this X-linked disease presents with coarse facial features, short stature, skeletal dysplasia, retinitis pigmentosa, hepatosplenomegaly, neurologic deterioration, and death in childhood. It is often distinguished clinically from Hurler syndrome by the absence of corneal clouding. Milder forms allow for survival to adulthood with minimal neurologic problems. Patients have the two types of sulphates in their urine. A variety of point mutations, splicing defects and deletions have been found in the gene, with full deletions causing the most severe disease. at present there is no cure. Inheritance: sex-linked (X chromosome). (29 Dec 1997) |
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| Adams, Sir William | <person> British surgeon, 1760-1829. (05 Mar 2000) |
| Adie, William J | <person> Australian physician, 1886-1935. See: Adie's pupil, Adie syndrome, Holmes-Adie pupil, Holmes-Adie syndrome. (05 Mar 2000) |
| Aston, Francis William | <person, radiobiology> Physicist at Cambridge University who invented the mass spectrometer in 1919, a device which could measure the mass of individual atoms. This device led to his discovery that the helium nucleus was less massive than the two hydrogen nuclei which could have formed it (implying that the missing mass could somehow be converted into energy through the process of nuclear fusion). (09 Oct 1997) |
| Baker, William | <person> English surgeon, 1839-1896. See: Baker's cyst. (05 Mar 2000) |
| Bevan-Lewis, William | <person> English physician and physiologist, 1847-1929. See: Bevan-Lewis cells. (05 Mar 2000) |
| Bonwill, William | <person> U.S. Dentist, 1833-1899. See: Bonwill triangle. (05 Mar 2000) |
| Bowman, Sir William | <person> B. Nantwich, Cheshire, July 20th, 1816. Was a Surgeon and Anatomist. Was Surgeon to Birmingham General Hospital and went to London in 1837. Was elected F.R.S. (1841) and F.R.C.S. (1854) and was appointed Professor of Anatomy and Physiology at King's College, London (1848-1956). Was the leading Opthalmic Surgeon in England. D. At his house, Joldwynds, near Dorking, Mar. 29th, 1892. Bowman's Capsule - surrounding the glomerulus in the kidney. Bowman's Glands - glands in the olfactory mucous membrane. On the structure and use of the Malpighian bodies of the kidney. Phil Trans. 1842. Much of Bowman's best anatomical work is to be found in Robert Todd's Cyclopaedia of Anatomy and Physiology. London 1835-1859. Lived: 1816-1892. (05 Dec 1998) |
| Braasch, William | <person> U.S. Urologist, 1878-1975. See: Braasch catheter. (05 Mar 2000) |
| Browning, William | <person> U.S. Anatomist and neurologist, 1855-1941. See: Browning's vein. (05 Mar 2000) |
| Caldwell, William | <person> U.S. Obstetrician, 1880-1943. See: Caldwell-Moloy classification. (05 Mar 2000) |
| Campbell, William | <person> U.S. Surgeon, 1867-1926. See: Campbell's ligament. (05 Mar 2000) |
| Macewen, Sir William | <person> Scottish surgeon, 1848-1924. See: Macewen's sign, Macewen's symptom, Macewen's triangle. (05 Mar 2000) |
| Gairdner, Sir William | <person> Scottish physician, 1824-1907. See: Gairdner's disease. (05 Mar 2000) |
| Macleod, William Mathieson | <person> British physician, 1911-1977. See: Macleod's syndrome, Swyer-James-MacLeod syndrome. (05 Mar 2000) |