Medical Miscellany Trivia Quiz

Answer: 3 - 10 percent

Klinefelter's syndrome, or XXY disorder, is characterised by small testes, sparse body hair, a round body shape, and enlarged breasts. In 1942, Dr. Harry Klinefelter co-authored a paper on this new disease in the Journal of Clinical Endocrinology and Metabolism. Since he was the youngest member of the group submitting the paper, his name was listed first, and the medical community began calling the chromosomal abnormality Klinefelter's syndrome.

He believed the credit was due his mentor, Dr. Fuller Albright, saying, "He unselfishly allowed my name to come first on the list of authors." Hence, the disease is sometimes known as Klinefelter-Reifenstein-Albright syndrome. (http://www.genetic.org/ks/scvs/ks_bio.htm)

Answer: Urease

James Batcheller Sumner crystallized and purified jack bean urease in 1926. He shared the 1946 Nobel prize in Chemistry with John Northrop and Wendell Stanley "for his discovery that enzymes can be crystallized" (the other scientists dealt with te tobacco mosaic virus).
(http://www.nobel.se/chemistry/laureates/1946/index.html)

Answer: Progeria

Children afflicted with progeria appear to age at about 7 times the natural rate. The symptoms include dwarfism, baldness, aged-looking skin, stiff joints, atherosclerosis, and cardiovascular problems. Another form of progeria, called Werner's syndrome, occurs in late adolescence and early adulthood, and has many of the same symptoms.

Answer: Dr. George Papanicolaou

Dr. George Papanicolaou began his research into vaginal and cervical cytology in the 1920s at Cornell University. In 1943, Drs. Papanicolaou and Traut published their findings regarding the vaginal smear. The test for cervical cancer, which involves scraping cells from the mouth of the uterus with a swab, is known as a Pap test or Pap smear after this Greek doctor.

Answer: NAA

NAA, or N-acetylaspartate acid, is essential in the production of myelin, which is the fatty coating around nerves. Normally, the brain produces enough aspartoacyclase to break down NAA into its constituent parts so myelin can be constructed, but in Canavan disease this enzyme is not found.

This disease is most common in Ashkenazi Jews and Saudi Arabians, and is characterized by muscle rigidity and hypotonia, mental retardation, blindness, and exaggerated reflexes. Most children afflicted with this disorder die a year and a half after diagnosis.

Answer: 60 days

The radioactive half-life is "the time for half the radioactive nuclei in any sample to undergo radioactive decay." 125-Iodine decays via electron capture to 125-Tellurium. In electron capture, an inner-shell electron is "captured" by a proton in the nucleus, where it then forms a neutron and a neutrino. Since a proton is lost and a neutron is gained, the element changes into another.
(quote from http://hyperphysics.phy-astr.gsu.edu/hbase/nuclear/halfli.html)

Answer: Angelman Syndrome

One of the most outstanding features of this genetic disorder is the bouts of unprovoked, uncontrollable bouts of laughter in an otherwise mute child. Angelman syndrome is caused by a "maternally-inherited deletion on chromosome 15q, 11-13." If the deletion is from the father, Prader-Willi syndrome results. In Prader-Willi syndrome, the afflicted child has poor muscle tone, small gonads, cognitive impairment, and the uncontrollable urge to eat continually, leading to morbid obesity.
(http://www.gpnotebook.co.uk/cache/275447816.htm)

Answer: Lissencephaly

The word lissencephaly comes from the Greek lissos, "smooth," and enkephalos, "brain." A brain with "mild" lissencephaly is known as pachygyric (pachys, "thick," and the Latin gyrus, "circle") because of the broad, flat gyri. Complete lissencephaly renders the brain completely smooth (agyria, meaning "without circles"), while a "classical" lissencephalic brain has areas of pachygyria and agyria.

Answer: Scaphocephaly

Scaphocephaly, also known as dolichocephaly, is the most common type of craniosynostosis, with an incidence of 55% in babies born with one or more cranial suture prematurely fused. It gets its name from the Greek skaphoiedes, "like a bowl," (ultimately from skaphe, "boat," and oeides, "shape") and kephale, "head." Other types of craniosynostoses inclue turricephaly (a "turret-shaped" head), plagiocephaly (an obliquely slanted head), brachycephaly (a "short" head), trigonocephaly (a pointy forehead), and kleeblattschadel (a "clover-leaf" head).

Answer: Chondrodysplasias

Chondrodysplasias are often associated with mutations in type II collagen, a protein present in bones, cartilage, the vitreous humor of the eye, and connective tissues.