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7 Cards in this Set
- Front
- Back
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colorblindness
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Color blindness, or color vision deficiency, in humans is the inability to perceive differences between some or all colors that other people can distinguish. It is most often of genetic nature, but may also occur because of eye, nerve, or brain damage, or due to exposure to certain chemicals. The English chemist John Dalton in 1798 published the first scientific paper on the subject, "Extraordinary facts relating to the vision of colours", after the realization of his own color blindness; because of Dalton's work, the condition is sometimes called Daltonism, although this term is now used for a type of color blindness called deuteranopia.
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cancer
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Cancer is a group of diseases in which cells are aggressive (grow and divide without respect to normal limits), invasive (invade and destroy adjacent tissues), and/or metastatic (spread to other locations in the body). These three malignant properties of cancers differentiate them from benign tumors, which are self-limited in their growth and do not invade or metastasize (although some benign tumor types are capable of becoming malignant). Cancer may affect people at all ages, even fetuses, but risk for the more common varieties tends to increase with age. Cancer causes about 13% of all deaths. Apart from people, forms of cancer may affect animals and plants.
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cystic fibrosis
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Cystic fibrosis (CF), is a hereditary disease that mainly affects the lungs and digestive system, causing progressive disability and for some, early death. Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply "cystic fibrosis". Average life expectancy is around 37 years, although improvements in treatments mean a baby born today could expect to live longer.
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sickle-cell anemia
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Sickle-cell disease is a group of genetic disorders caused by sickle hemoglobin (Hgb S or Hb S). In many forms of the disease, the red blood cells change shape upon deoxygenation because of polymerization of the abnormal sickle hemoglobin; the hemoglobin proteins stick to each other, causing the cell to get a rigid surface and sickle shape. This process damages the red blood cell membrane, and can cause the cells to become stuck in blood vessels. This deprives the downstream tissues of oxygen and causes ischemia and infarction, which may cause organ damage, such as stroke. The disease is chronic and lifelong. Individuals are most often well, but their lives are punctuated by periodic painful attacks. Life-expectancy is shortened, but contemporary survival data is lacking. Older studies indicated that sufferers could live to an average of 40 to 50 years, with the average age for males being 42 and the average age for females being 48. Sickle-cell disease occurs more commonly in people (or their descendants) from parts of the world such as sub-Saharan Africa, where malaria is or was common, but it also occurs in people of other ethnicities. As a result, those with sickle cell disease are resistant to malaria since the red blood cells are not conducive to the parasites. The mutated allele is recessive, meaning it must be inherited from each parent for the individual to have the disease.
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Huntingons disease
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Huntington's disease (HD), also misspelt as Huntington disease and known historically as Huntington's chorea and chorea maior, is a rare inherited neurological disorder affecting up to approximately 10 people per 100,000 people of Western European descent and 0.1 out of 100,000 in people of Asian and African descent. It takes its name from the New York physician George Huntington who described it concisely and precisely in 1872 in his first medical paper. HD has been heavily researched in the last few decades and it was one of the first inherited genetic disorders for which an accurate test could be performed. Huntington's disease is caused by a trinucleotide repeat expansion in the Huntingtin (Htt) gene and is one of several polyglutamine (or PolyQ) diseases. This expansion produces an altered form of the Htt protein, mutant Huntingtin (mHtt), which results in neuronal cell death in select areas of the brain. Huntington's disease is a terminal illness.
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Down Syndrome
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Down syndrome or trisomy 21 (usually Down's Syndrome in British English) is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British doctor who described it in 1866. The disorder was identified as a chromosome 21 trisomy by Jérôme Lejeune in 1959. The condition is characterized by a combination of major and minor differences in structure. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. Down syndrome can be identified during pregnancy or at birth.
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Phenylketonuria
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hereditary disease in which the body does not produce the enzyme needed to break down phenylalanine (Medicine)
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