...The genetic disease that I got was Tay Sachs’ Disease. Tay Sachs’ Disease is a disease that destroys your nerve cells and effects your spinal cord. It can effect you in many different ways and eventually can kill you. Tay Sachs’ Disease got it’s name from a British ophthalmologist named Warren Tay. He was treating someone with a cherry-red spot on the retina of their eye when he noticed this disease. It was also named by a New York neurologist named Bernard Sachs. He noticed that that this disease was only found in Eastern European Jewish descent at the time.Today it is starting to be found in different races besides just Jewish origin. This disease is mostly common in infants but, can be seen in teenagers or even adults around the age...
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...Tay-sachs disease is a genetic disorder that the result in the detruction of nerve cells in the brain and spinal cord. The most common type, known as infantile Tay-sachs disease, becomes apparent around three to six months of age with the baby losing the ability to turn over,sit, or crawl. This is the followed by seizures, hearing loss ,and inability to move. Death usually occurs in early childhood. Less commonly the disease may occur in later childhood or adulthood. These forms generally milder in nature. It is inherited from a person’s parents in an autosomal recessive manner.the mutation results in problems with an enzyme called beta-hexosaminidase which results in the blood hexosaminidase a level or genetic testing. The target age of...
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...Tay-Sachs disease is an inherited recessive gene disorder that progressively destroys nerve cells within the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear to be developing normally until the age of three to six months. Typically after this point is when their development slows and muscles begin to weaken. These infants lose motor skills and identifiable milestones such as turning over, sitting, and crawling. Another sign of this disease is the sudden startle reaction to loud noises. As the disease progresses, children often begin to acquire seizures, vision and hearing loss, and paralysis. A common characteristic of this disease is an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Often times this is how the disease is found when at a doctor’s visit. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood, usually somewhere between the ages of three to five....
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...Tay-Sach’s Disease is an autosomal recessive disorder that is fatal within the first two or three years of life. Although this disease can affect anyone at any age, it is most common in children. This disease is unable to produce an enzyme called hexosaminidase-A (Hex-A) that is necessary for fat metabolism in the nerve cells. The more this happens, the more progressive damage occurs to the cell. When the lipids or fats build up in the brain’s nerve cells, it leads to a slow degeneration of the cells of the nervous system, thus bringing decay of the cerebellum. Tay-Sach’s disease was named after Warren Tay and Bernard Sachs, these were two doctors who worked independently. In 1881, Dr. Tay, an ophthalmologist, described a patient with a cherry...
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...Tay-Sachs Disease Tay-Sachs Disease is a neurological disorder that is passed on from parent to child in the same way that other genetic traits are passed on. The first section of this paper, on pathophysiology, will go into this subject further. It will explain not only how the trait for this disease is passed from generation to generation, but also the specific mutations that cause it. This section will explore the trait that is expressed when the gene is turned on, how it effects cell metabolism, and in turn, the disorder that is caused in the body as a result. The second section will describe the clinical manifestation of the disease. It will cover what is typical in a patient with the disease, initial and continuing symptomology, and unfortunately, the cause of death in most people who have the disease. Lastly, the final section will reveal the medical management of the disease. Tay-Sachs has caused so much suffering, but with the advances made in genetic technology, and a little luck, the current generation of researchers are hoping to change that (Wise, 2012). Pathophysiology Tay-Sachs disease results from a number of different mutations on the fifteenth chromosome. When the gene functions correctly, it results in an enzyme called hexosaminodase. This enzyme breaks down molecules in the body called gangliosides. Without the proper enzyme to break these molecules down, they build up in what are called ganglion cells. These cells then swell keeping the neurons fro functioning...
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...Tay-Sachs Disease Foreword: Before beginning to read this review of the case study, please note that current events of today pertain more to preconception screening for genetic anomalies and genetic studies. Today due to preconception genetic screening many parents opt to terminate a fetus with fatal or painful anomalies; therefore a large portion of the research for parents who are expecting a child with Tay Sachs Disease was noted to be during an approximate 30 year span from the mid-1950’s to the early-mid 1980’s, thus older citings will be noted. “Tay-Sachs parents say that their child dies three times—when the disease is diagnosed, when the child enters the hospital, and the final time.” (Atwater, 1964) “How do you parent without a net, without a future, knowing that you will lose your child, bit by torturous bit?” (Rapp, 2011) Will it be a boy or a girl? What color will the eyes, the hair be? Whose smile will the baby have? These are just a few of the many questions that begin when parents find out they have conceived a child, and most of the time the questions only grow as the pregnancy progresses too; what will they want to be when they grow up? Who will they look like? Will they be strong, graceful, independent, or determined? Should we look at preschools and colleges now? It may not seem to occur very often that parents will say to themselves; we never thought about how we might parent a child without a future. Now instead of questions that may focus on the...
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...or not a person may carry a higher risk for some diseases may in fact save their life, or the lives of their current or future children. However, over the years of development of the science, more and more controversial types of testing have developed. In this paper, the science of genetic testing will be introduced by going through a brief history, the different types of genetic testing available, as well as the controversies that surround them. History Genetic testing had a very positive and productive start. The first usage of Genetic Testing occurred over half a century ago, beginning with the testing of infants for PKU, or Phenylketonuria, “an inborn error of metabolism in which an amino acid buildup in the blood causes mental retardation.” (Lewis) To test infants, a drop of blood was taken from their heel while at the hospital after birth. If a child was found positive for PKU, dietary treatment was used to prevent loss of brain function. Testing was reliable and results were accurate. The disease being tested for was easily treatable, and every child that came through was tested without a problem. (Lewis) In the 1970’s, doctors began the process of testing individuals for sickle cell anemia and Tay-Sachs disease. The testing for these two diseases became mandatory in twelve states. However, because of the small amount of information available to the general public, misunderstanding of test results became common. Another factor for disappointment at the time was...
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...information in the annotated bibliography, the paper will be on human gene editing. It will be focusing on the ethical and legal aspects of human gene editing. She is going to argue that people shouldn’t be able to participate in gene editing. 2. In the sources, there are several summaries about the CRISPR technique used in human gene editing, but it is flawed and not a technique that is completely reliable yet in modern medicine. She addresses that she will be addressing legal and ethical aspects of the gene editing controversies. She also included several points about using credible scientist that focus on this section in biology, and using their knowledge and facts to justify why individuals should not practice human gene editing...
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...diseases on unborn babies. When having genetic screening done, it usually checks for Carriers, TSD, and SCID. This paper will talk about somethings genetic screening can check for. Genetic screening can be used to check certain diseases. Using genetic screening can check for carriers, according to the article “Genetic Testing” by Janet Buchanan Carriers is a type of genetic testing used on couples who would like to have children to see if they have a genetic disorder (Buchanan). Buchanan means that couples who have a history of genetic disorders have to get a carrier. A second term would be TSD, TSD stands for Tay-Sachs Diseases, TSD is a genetic disorder, that carriers can identify, and it can lead to paralysis, blindness, mental retardation, and death (“Tay”). TSD is a genetic disorder which can be passed down from family members. Lastly, SCID is another genetic disorder that can result in infections and death to babies within a year of birth (Timmermans and Buchbinder 213). They mean that SCID is a serious genetic disorder for babies under a year. This paper is written for couples who would like to have kids, and would like to know more about genetic screening. Genetic screening/ testing for fetuses has been changing over the years, throughout history. There have been many major events in genetic research, one good example would be, “Rapid advances in genetic research since the 1980’s have challenged scientists, health care professionals, ethicists, government regulators, legislators...
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...that the invisible value-belief system of a particular culture is often the major driving force behind visible practices” (p. 107). Cultural and spiritual assessment paper gives me a chance to look at my own culture. “Becoming culturally competent first requires you to examine your feelings and experiences regarding diversity, starting with an understanding of your own heritage. Then, you will need to learn more about specific cultural differences so you can develop an appreciation for the values and beliefs of both patients and staff co-workers” (Ignatavicius & Workman, 2010, p. 28). As far as mental health patients, it is an absolute necessary to understand the client’s culture since it has a very big influence on their wellness state. If a healthcare provider does not consider the client’s culture, it will cause lots of trouble and pain for the client. “Clients suffer cultural pain when health care providers disregard their valued way of life” (Potter & Perry, 2009, p. 113). Spirituality has an important role in a person’s well-being. “Spirituality and spiritual well-being are significant factors in maintaining health and coping with chronic and terminal illnesses” (Potter & Perry, 2009, p. 447). Spirituality helps patients to cope with their illness. It may be an outside force that supports them. “Research shows that spirituality positively affects and enhances health, quality of life, health...
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...Section 7: Conclusion Section China and the World: Scenarios to 2025 7 Conclusion Given the importance of China today, there can Wild cards are low probability events which be no doubt that the determination of Chinese would have a significant impact if they were to leadership to maintain the course of reform will occur. In the case of China they could include : be a decisive factor in the global future. It is • A possible Taiwan conflict : equally true that the support of other global How would China react if Taiwan were to players and their preparedness to welcome declare independence ? For many years China in its gradual rise in greatness will have a independence was not an issue as the direct impact on how China emerges. Given the Kuomintang rulers of Taiwan claimed they close connection between China and global were the real government of China and welfare, these scenarios indicate that outsiders had no interest in relinquishing their claim must appreciate the scale of the challenges on sovereignty. But independence has faced by the government in Beijing, and that become an issue with the rise of generations those in China need to comprehend the born and raised on the island. They have sensitivities of outsiders to its rise. successfully established democratic rule and some do not want to be subject to rule Raising awareness of differing sensitivities is an important role that scenarios can play. from a distant capital. The implications of...
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...trong cả 4 phần thi LISTENING / SPEAKING / READING / WRITING. Ví dụ: Nếu bạn dùng từ: SIMULTANEOUSLY thay cho từ AT THE SAME TIME, hay PORTABLE thay cho từ EASY TO CARRY hay MITIGATE thay cho từ LESSEN … trong phần WRITING và SPEAKING thì điểm của bạn sẽ cao chót vót không ngờ luôn đấy. Chưa kể, nhất là trong phần READING, những từ trong quyển sách này xuất hiện nhiều lắm, và cả LISTENING nữa chứ. Sự lợi hại của quyển sách này, chắc chắn chỉ khi nào học rồi, bạn mới thấy rõ. Quyển này (nhà xuất bản TPHCM) đã hết bán rồi. Nên nếu bạn nào cần phôtô thì liên lạc Uyên Uyên: UyenUyen@englishtime.us Tuy nhiên mỗi tuần Bear vẫn sẽ post lên đây 20 từ trong quyển sách đó, để nếu bạn nào ở xa, vẫn có thể học được. Đương nhiên mỗi người có 1 cách học riêng và trí nhớ khác nhau. Có người nhìn qua là nhớ liền, có người nhìn hoài vẫn không nhớ, nên Bear suggest cách học này, bạn nào thấy thích hợp với mình thì áp dụng: 1/ Mỗi ngày học 3 từ: giống như ăn cơm vậy: sáng 1 từ, trưa 1 từ, tối 1 từ. Vui lòng đừng thấy cuốn sách quá hay mà học 1 ngày vài ba chục từ rồi ngày mai nhìn lại thấy ngán.. rồi.. bỏ luôn quyển sách hay này nhé. 2/ Làm sao mà trước khi đi ngủ, có thể đọc (hoặc viết) ra 3 câu ví dụ có chứa từ đó là xem như ok. Nhớ là đừng học...
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...Executive Summary The following report will determine the strategic position of Rolls-Royce and the environmental impact of a new technology upon that strategic position. The report will analyse and evaluate the role and impact of short to medium range single aisle narrow body aircraft on the strategic position of Rolls-Royce. The report will focus on the civil aerospace business of Rolls-Royce and will use Rolls-Royce Inchinnan as a base model. The Boeing 737 series and Airbus A320 are the most popular aircraft ever produced with a 737 landing in the world every five seconds. The 737 in particular will reach the end of its service life within the next ten years. Southwest airlines are requesting an overdue replacement with most airframes living thirty years, the original 737 was released in 1967. The effect of the next generation 737, released in 1998, retiring will leave a considerable gap to be filled. Rolls-Royce does not power the Boeing 737which is monopolised by Pratt and Whitney and General Electric. Should Rolls-Royce attain a share of this market it will become the largest contract ever undertaken by Rolls-Royce. The new aircraft is currently under development and is expected to form the latest of aerospace technology such as composite structures, geared turbofans or open rotor designs. All of the large aerospace manufacturers are currently vying for involvement in the programme for should the new edition emanate the previous, the returns will be substantial...
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...Walter Glannon: Genes, Embryos, and Future People Bioethics, 02699702, Jul98, Vol. 12, Issue 3 ABSTRACT: Testing embryonic cells for genetic abnormalities gives us the capacity to predict whether and to what extent people will exist with disease and disability. Moreover, the freezing of embryos for long periods of time enables us to alter the length of a normal human lifespan. After highlighting the shortcomings of somatic-cell gene therapy and germ-line genetic alteration, I argue that the testing and selective termination of genetically defective embryos is the only medically and morally defensible way to prevent the existence of people with severe disability, pain and suffering that make their lives not worth living for them on the whole. In addition, I consider the possible harmful effects on children born from frozen embryos after the deaths of their biological parents, or when their parents are at an advanced age. I also explore whether embryos have moral status and whether the prospects for disease-preventing genetic alteration can justify long-term cryopreservation of embryos. INTRODUCTION Recent advances in reproductive biotechnology have given us the ability to intervene in the process of human biological development from embryos to people. One type of intervention is the testing of embryos for genetic defects that cause disease, which enables us to choose between allowing these embryos to result in disabled people or selectively terminating...
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...Tạp chí Khoa học ĐHQGHN, Ngoại ngữ 24 (2008) 12-21 Nghiên cứu thực nghiệm và nghiên cứu dân tộc học: hai phương pháp cơ bản trong ngôn ngữ học ứng dụng Lê Hùng Tiến* Khoa Sau Đại học, Trường Đại học Ngoại ngữ, Đại học Quốc gia Hà Nội, Đường Phạm Văn Đồng, Cầu Giấy, Hà Nội, Việt Nam Nhận ngày 23 tháng 03 năm 2008 Tóm tắt. Bài viết là một trong những nỗ lực bàn về các phương pháp nghiên cứu ngôn ngữ học ứng dụng (NNHƯD), chủ yếu tập trung vào hai phương pháp chính là phương pháp thực nghiệm và phương pháp dân tộc học và những vấn đề liên quan tới nghiên cứu NNHƯD tại Việt Nam. Nội dung bài tập trung vào một số vấn đề: - Một số vấn đề về lý luận cơ bản trong nghiên cứu NNHƯD. - Hai phương pháp cơ bản trong nghiên cứu NNHƯD: nghiên cứu thực nghiệm và nghiên cứu dân tộc học. - Các khái niệm, kỹ thuật cơ bản và sự khác nhau giữa hai phương pháp nghiên cứu NNHƯD - Một số vấn đề về thực tiễn nghiên cứu NNHƯD ở Việt Nam. nghĩa hẹp hơn chỉ phân ngành nghiên cứu việc dạy và học ngoại ngữ. Hiện tại ở trong nước việc nghiên cứu NNHƯD cũng đang phát triển phục vụ trực tiếp cho việc ứng dụng ngôn ngữ vào các mục đích thực tiễn như dạy và học ngoại ngữ, dịch thuật, pháp y, điều trị học, v.v... Tuy nhiên trong các nghiên cứu nói trên phần nhiều vẫn còn ở tình trạng manh mún và thiếu phương pháp, kỹ thuật nghiên cứu phù hợp, dẫn tới tình trạng các kết quả nghiên cứu mang tính ứng dụng thấp chưa đóng góp nhiều cho lý luận hoặc phục vụ hiệu quả cho thực tiễn ở Việt...
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