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Old 22-08-2012, 01:07 AM   #110
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Lightbulb Waardenburg

Waardenburg syndrome (also Waardenburg­ Shah Syndrome, Waardenburg-Klein syndrome, Mende's syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont,Van der Hoeve-Waardenburg-Klein syndrome, Waardenburg's syndrome II and Vogt’s syndrome.) is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies...Abnormalities in neural crest development cause neurocristopathies, which include conditions such as frontonasal dysplasia, Waardenburg-Shah syndrome, and DiGeorge syndrome...22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome (DGS), DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia is a syndrome caused by the deletion of a small piece of chromosome 22...
Petrus Johannes Waardenburg (3 June 1886, Nijeveen, Drenthe – 23 September 1979) was a Dutch ophthalmologist, geneticist, and pioneer in the application of genetics to ophthalmology. Waardenburg syndrome is named after him...Waardenburg studied medicine at the Utrecht University from 1904–11, and then trained in ophthalmology before receiving an MD for a dissertation on the hereditary basis of the physiological and pathological characteristics of the eye in 1913...He described the syndrome as a distinct entity and found the anomalies in 12 of 840 deaf mutes...
In 1932 Waardenburg suggested that Down syndrome might be the consequence of a chromosomal aberration, a fact which was confirmed after 27 years, by Jérôme Lejeune and his colleagues...In 1913, Jan van der Hoeve observed and described a lateral position of the lacrimal points and shortened eyelid slit in identical deaf mute twins....Waardenburg was awarded the Royal decoration Order of the Netherlands Lion in 1957. He received the Snellen medal in 1959. He founded the Waardenburg prize for special merit in the medical genetic field in 1965...

Father Damien and the Lepers of Kalaupapa

Some 2,200 miles (3540km) southwest of California, in the heart of the Hawaiian islands, is the island of Molokai...Kalaupapa's reputation as a leprosy colony is well-known. Hansen's disease, the proper term for leprosy, is believed to have spread to Hawaii from China. The first documented case of leprosy occurred in 1848. Its rapid spread and unknown cure precipitated the urgent need for complete and total isolation...In early 1866, the first leprosy victims were shipped to Kalaupapa and existed for 7 years before Father Damien arrived...The village of Kalaupapa on Moloka'i is well known as the site of legally enforced exile for people in Hawaii with the disease of leprosy...According to many accounts, the spread of disease from European contact was not entirely accidental. Europeans who were arriving in the Americas had already been exposed to the diseases, attaining immunity, and thus were not affected by them. Therefore, it would be an effective technique when others were exhausted to use disease as a biological weapon...
An English trader is quoted concerning the two Indian chiefs given "two blankets and a handkerchief out of the small pox hospital. I hope it will have the desired effect."
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