Von Hippel-Lindau Syndrome :: essays research papers

Von Hippel-Lindau syndrome is one of over 7000 known inherited diseases. It is an autosomal dominant disease that affects about 10% of the population.1 The history of VHL reaches back to 1864 when scattered reports of knots of blood vessels known as hemangioblastomas on the retina surfaced and were written up by opthamolagists. Eugene Von Hippel, a German opthamologist is credited with discovering the familial nature of the disease, however Swedish pathologist Arvid Lindau was the one who suggested that these hemangioblastomas are part of a larger "angiomatus [involving knots of blood vessels] lesion of the central nervous system." Additional reports of affected small families confermed Lindau's theory. In 1964, Melmon and Rosen summarized all knowlege of the disease and coined the name "Von Hippel-Lindau." The invention of ultrasound aided detection in the late 1970's, and by the mid 1980's, MRI was commonly used for detection of angiomas on the spine. In 1 993, the VHL gene was located by researchers at the National Cancer Institute. Patients with VHL suffer tumors known as angiomas (they are referred to as hemangioblastomas when discussing the retina, brain, or spinal chord and pheochromocytomas when discussing the adrenal glands) consisting of tiny knots of blood vessels. These angiomas can occur in the brain, spinal cord, retina, adrenal glands, kidney, pancreas, and very rarely in the epididymis is men and the fallopian tubes in women. Based on these manifestations, scientists have identified two types of VHL: 1) without pheochromocytoma 2) with pheochromocytoma. VHL type 2 has further been divided into two subcatagories: 2a) without pancreatic cysts 2b) with pancreatic cysts. VHL type 1 is the most common form of the disease. Scientists have also identified trends in race associated with manifestations of VHL: French families are most likely to have pancreatic cysts, German families are most likely to have pheochromocytomas, and Japanese families are more likely to have kidney tumors2. When hemangioblastomas form in the retina, they start out very small and difficult to detect. They tend to grow around the equator of the retina (See Fig 1), far from the area of central vision. A very indepth opthamological examination is required to detect hemangioblastomastomas of the retina. Once discovered, there are two main options for treatment: laser surgery or cryotherapy (freezing). The goal of these treatments is to keep the hemangioblastomas from growing. Hemangioblastomas in the brain and spinal cord can be a bit more dangerous. Early signs of a growth in these areas may include back pain, headaches, numbness, dizziness, and weakness or pain in the arms or legs.

Intellectual Property, Copyright, Authorship, and Individuality in Music and Print Culture :: Intellectual Property Copyright Authorship

Intellectual Property, Copyright, Authorship, and Individuality in Music and Print Culture When the alphabet was invented, spoken epics could be converted into an abstract representation - writing. The experience of the spoken epic poem could be transformed into written format. Although books can be read aloud and therefore retain some similarity to the communal nature of the oral tradition, books can also be read silently in solitude, emphasizing the individual reader. Among the many functions that Roger Chartier has attributed to the figure of the author is not only the role of creator to the content, but also to appropriate ownership of that creation to whomever owns the property rights to that content (36). Copyright law protects the specific manifestations of ideas and facts, but not those ideas and facts themselves. When commemoration was no longer used to experience memory, individual authors came to be recognized as readers became less participatory in the process of getting meaning from the work. The author as creator became an individual who gave meanin g to an audience fragmented by the ability of the written word to separate its readers from one another. The author serves as a meeting point for individual readers to receive meaning, whereas in pre-literate times, this meaning would have been constructed by a the entire group in the immediacy of the performance. In terms of property ownership, one parallel in music was the development of an agreed upon system of notes, scales, and representations of musical sounds and timings. This musical alphabet was necessary to write down scores of music, whether the ancient Egyptian's "music of the spheres" or Beethoven's Ninth Symphony. It serves to organize noise into a format that is accepted as the creation of a musician. As Albert Borgmann writes, "The identity and integrity of a piece of music can be underwritten by a score only if there is a complete and authoritative score" (94). This means that a written account of a performed piece is only equal in validity to the performed piece if some amount of authority is granted the former. The composer/author of the piece serves as the source of this authority. However, if there is no score, the identity and integrity of the piece must lie in its performance. In this case, it is the performers of the actual song that constitute it's integrity, an d this has implications that undermine the functions of the author.