...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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...that may cause certain diseases or dysfunctions. It is my opinion that standard genetic testing for disease or the predisposition to disease is purely beneficial. Having clear answers as to whether 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...
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...should be checked. Genetic testing is an effective way to check diseases on unborn babies. When having...
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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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...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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...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 their further development. Alternatively, in the foreseeable future it may become possible to prevent disease by correcting a mutation in embryonic cells or by inserting a normal...
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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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...generations grow and the need for basic food items is increased. Technology is involved in every facet of our lives. It is used continuously every day whether it be waking up to an alarm clock, watching TV that you recorded on a digital video recorder, brushing your teeth with a mechanical toothbrush, or using your GPS navigation system when going to your latest vacation destination. The latest technology has made it possible for people to communicate with others all over the world in both audio and video formats. Scientists are continuously looking for ways to make living easier and more productive. They are looking for solutions to world hunger, new medical advances to cure cancer and other diseases plaguing the world, and ways to make our society a healthier place to live. In this research paper, we will be discussing Genetically Modified Organisms (GMO) and their contributions to these causes. We will be examining the history, political, moral, ethical, and many other ways that GMOs have influenced everyday living. Genetically Modified Organisms (GMO)...
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...HUE UNIVERSITY COLLEGE OF FOREIGN LANGUAGES DEPARTMENT OF ENGLISH ------***------ NGUYEN VAN TUAN TRANSLATION 5 HUE - 2006 1 INTRODUCTION TRANSLATION 5 is a basic course book written for the second-year students of the Department of English, College of Foreign Languages, Hue University. It is intended to equip the students with an overview of translating Vietnamese and English scientific texts. It also helps the students get familiar with the terms related to science and technology as well as the typical structures frequently used in scientific and technological texts. Since the course book has been written for the students to learn either by themselves or in class with a teacher, there will be a course book and assignments. The course book contains the Vietnamese and English socio-politic texts with notes and suggested translations. The assignments contain the Vietnamese and English socio-politic texts that will be translated into either English or Vietnamese by the students. By the end of the course, the students will be able to: - obtain general knowledge of the Vietnamese and English scientific and technological documents. - get familiar with and effectively use scientific and technological terms and typical structures of scientific and technological texts in their translations. - accurately translate scientific and technological texts into English and Vietnamese. On the completion of this course book, I would like to express...
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...Guns, Germs and Steel Page 1 GUNS, GERMS, AND STEEL: The Fates of Human Societies By Jared Diamond, 1997 About the Author: Jared Diamond is a professor of physiology at UCLA School of Medicine. He is a recipient of a MacArthur Foundation Fellowship and was awarded a 1999 National Medal of Science. He is also the author of The Third Chimpanzee. SUMMARY The book asks and attempts to answer the question, once humankind spread throughout the world, why did different populations in different locations have such different histories? The modern world has been shaped by conquest, epidemics, and genocide, the ingredients of which arose first in Eurasia. The book’s premise is that those ingredients required the development of agriculture. Agriculture also arose first in Eurasia, not because Eurasians were superior in any way to people of other continents, but because of a unique combination of naturally occurring advantages, including more and more suitable wild crops and animals to domesticate, a larger land mass with fewer barriers to the spread of people, crops, and technology, and an east-west axis which meant that climate was similar across the region. The book is well written and contains not only information about the history of cultures around the world, but excellent descriptions of the scientific methodologies used to study them, from how archeologists study the origin of agriculture to how writing evolved to how linguistics can trace the movements of peoples across huge geographic...
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...A2 Biology Unit 5 page 1 AQA A2 Biology Unit 5 Contents Specification Human Nervous system Nerve Cells The Nerve Impulse Synapses Receptors Muscle Animal Responses Control of Heart Rate The Hormone System Homeostasis Temperature Homeostasis Blood Glucose Homeostasis Control of Mammalian Oestrus Plant Responses The Genetic Code Protein Synthesis Gene Mutations Stem Cells Control of Gene Expression Biotechnology DNA sequencing Southern Blot In vivo cloning Genetically Modified Organisms Gene Therapy Genetic Screening and Counselling 2 4 6 0 14 17 24 28 30 33 34 38 42 44 48 50 54 57 63 66 71 76 80 85 89 92 Molecular Genetics These notes may be used freely by A level biology students and teachers, and they may be copied and edited. Please do not use these materials for commercial purposes. I would be interested to hear of any comments and corrections. Neil C Millar (nmillar@ntlworld.co.uk) Head of Biology, Heckmondwike Grammar School High Street, Heckmondwike, WF16 0AH Jan 2010 HGS Biology A-level notes NCM 8/09 A2 Biology Unit 5 page 2 Biology Unit 5 Specification Control Systems Organisms increase their chance of survival by responding to changes in their environment. The Nerve Impulse The structure of a myelinated motor neurone. The establishment of a resting potential in terms of differential membrane permeability, electrochemical gradients and the movement of sodium and potassium ions. Changes in membrane permeability lead to depolarisation and the...
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