...Edwards Syndrome: Trisomy Eighteen Congenital abnormalities constitute for many genetic defects during conception. During the process of Meiosis, cell division of a diploid cell occurs, which results in a four haploid progeny cells. These cells have half of the genetic information from the original parental diploid cell (Pearson School 2011). Twenty-three chromosomes are present in each cell. Once the sperm and the egg meet, Meiosis begins. This process of splitting cells and DNA replication can result in genetic information to be transferred, deleted, or relocated on accident. Twenty-three chromosomes from the father and twenty-three chromosomes from the mother combined, resulting in forty-six chromosomes in each cell. A congenital abnormality that results from an extra copy of chromosome eighteen is called Edwards’ disease or Trisomy eighteen. During Meiosis, chromosome eighteen is duplicated three times, causing developmental issues that are life threatening. This genetic defect in most cases causes the fetus to be stillborn at birth (Trisomy 18 foundation, 2010). According to Thomas Weiss, “Edwards' syndrome is associated with a broad spectrum of abnormalities which consist of greater than one-hundred and thirty discrete defects involving the brain, heart, craniofacial structure, kidneys and stomach.” The purpose of this paper is to examine what Edward’s syndrome is: diagnosing, symptoms, treatment/management and prognosis. Diagnosing Diagnosing a Trisomy Eighteen infant...
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...of Down syndrome (DS). In order to completely understand how the love of a mother and father can be given to a child with such a disability, the individual needs to gain an understanding of what Down syndrome is. The reader of this paper will learn how Down syndrome got the name, what Down syndrome is, the case for this disorder, the facts that are known of Down syndrome. The methods used to test and find DS before the birth of a child. Statistical facts, the medical conditions which are present, how parents and teachers work with those born with DS. How the eating habits, sexuality habits of males and females with Down syndrome are viewed. The length of the life expectancy for someone who is challenged with DS compared to someone that is not mentally challenged. The last thing that I will cover within this paper is that of foundations that have been created to conduct research and treatment for those with Down syndrome and to answer the question that many may have as to there being a cure for Down syndrome. Down syndrome a term that many are familiar with in the United States; the scientific name for DS is usually known for the extra chromosome passed on to the child from the mother or father. Down syndrome may be called trisomy 21 or trisomy G. According to Leshin Down Syndrome originally was discovered “in 1866, when a physician named John Langdon Down published an essay in England in which he described a set of children with common features who were distinct from other...
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...chart, scissors are used to cut out each chromosome from an enlarged photo of the karyotype. Chromosome pairs are identified, and then arranged in chart form (figure 1). Numbers or letters have been assigned to specific chromosome pairs. Analysis of karyotype charts is helpful in the study of chromosome abnormalities. Figure 1: A Human Karyotype (left) and Karyotype Chart (right) Special staining techniques can reveal light and dark regions (bands) on the chromosomes. By matching the bands, it is now quite easy to identify specific chromosomes and prepare a karyotype chart (figure 2). Figure 2: A Human Karyotype Chart Using Chromosomes With Simulated Banding Materials * Sample karyotypes | * Scissors | * Unlined paper | * Transparent tape/glue | Procedure Part 1: The structure of a human karyotype chart 1. Carefully examine the human karyotype illustrated in figure 2 (previous page) a) How many rows of chromosomes are in a karyotype chart 4 rows b) Record the total number of chromosomes in the individual. 46 Chromosomes c) How many chromosome pairs are shown? There are 23 pairs shown; 22 somatic and 1 sex chromosome pair. d) What characteristic is used to give a chromosome pair a number? A special staining technique used to show the dark bands on the chromosome to pair them. Then, the size is analyzed and they are numbered from biggest to smallest. e) Which pair is not given a number? Why? The X and Y pair...
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...Down syndrome (DS) is a genetic disorder that is associated with growth delays, specific facial characteristics, and includes some mild to moderate intellectual disability. DS occurs due to an extra chromosome, and is often referred to as trisomy 21. Patients with DS have either a partial or full extra copy of chromose 21. The purpose of this paper is to describe the pathophysiology and epidemiology of the disorder. Next, the paper identifies family history and genetic testing options that are currently available. This paper covers bioethical principles that should be considered when providing healthcare to families that are caring for a dependent with DS. And finally, this paper discusses specific challenges and successes regarding healthcare services for DS. Pathophysiology and epidemiology...
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...p. 262). Analytical epidemiology studies the causes and risk factors of health events. In order to evaluate the health events in a population, both descriptive and analytical epidemiology are important (Stroup, D. & Thacker, S., 2009). Three categories of data sources commonly used in epidemiologic studies including surveillance data, census data, and vital records, data collected for other purposes, and epidemiologic data (Hilfinger Messias, McKeown, and Adams 2012). The epidemiological triangle is composed of three elements of disease, and includes host, agent, and environment. Changes in one element can increase or decrease a person’s risk of the disease (Hilfinger Messuas, McKeown, &Adams, 2012). The purpose of this paper is to describe the epidemiology of children with Down syndrome utilizing the principles of epidemiology, specifically, descriptive epidemiology. Down syndrome description Down syndrome, also known as...
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...Alberto Costa and his daughter Tyche, who has Down syndrome. Dr. Costa is a doctor and a neuroscientist and after the birth of his daughter he has devoted his medical research to Down syndrome. He has developed some promising treatments. The magazine article also notes the efforts of other researchers who have been developing noninvasive tests to allow pregnant women to determine whether their unborn babies have Down syndrome. Many pro-lifers fear that these tests will result in a “cure” for Down syndrome by eliminating children with Down syndrome. The article notes the problems researchers have had obtaining funding for Down syndrome research, perhaps because the “problem” will soon be solved by aborting babies with Down syndrome. Dmitriev, Valentine, and Patricia L. Oelwein, Advances in Down Syndrome. Seattle: Special Child Publications, 1988. This volume covers a wide range of intervention strategies including medical, educational, special needs, parental, and living skills. Although the readability lags in places due to complex subject matter, overall this is not a concern. Concise summary and conclusion statements are used effectively to enhance the clarity of main points and important concepts. The intervention strategies are well-documented, practical, and based upon acceptably current research. The book, while factual and thorough in its coverage of each topic, also conveys a positive attitude which promotes wider acceptance of people with special needs in general...
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...Shawnta Morris CJE 101-01 Research Paper October1, 2013 Racial Profiling and the Effects it has on Blacks in the Criminal Justice System. Some people wonder what is racial profiling. Racial profiling deals with miss-education, slavery, and incarceration. Since the beginning of slavery African Americans have suffered due to their identity. Racial profiling deals with selecting a person for their complaint of a specific racial group. The main reason in advocating racial profiling in the background of criminal study can enlarge the possibility of arresting criminals. Paul Bou-Habib stated, “If the rate at which members of a specific racial group commits a crime is higher than that of other criminals will be caught if the police concentrate their efforts on investigating members of the racial group in question?” (2011, p.34). It is injustice, when police officers, political officials, and judges have learned how to automatically have a racist attitude towards blacks. For example, my friend was in McDonald’s parking lot and he was in the process of switching seats with his friend because he was exhausted of driving. While leaving the parking lot, the officer had pulled them over because he seen a black guy get out of his car and thought something seemed suspicious. The officer implied that my friend did not use his right turning signal. The term “driving while black has been used to describe the practice of law enforcement officials to stop African-American drivers without probable...
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...Genetic testing is a scientific process in which an individual’s DNA can be screened for mutations or variations 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...
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...Racial Profiling Furnie J. Oden IV Strayer University- Lithonia Campus Some people wonder what is racial profiling. Racial profiling derives from fear of the unknown, miss-education, slavery, and incarceration. Since the beginning of slavery African Americans have dealt with profiling due to their identity. Racial profiling deals with selecting a person within a stereotypical criteria according to their specific racial group. The main reason in advocating racial profiling in the background of criminal study can enlarge the possibility of arresting criminals. Paul Bou-Habib stated, “If the rate at which members of a specific racial group commits a crime is higher than that of other criminals will be caught if the police concentrate their efforts on investigating members of the racial group in question?” (2011, p.34). It is not right when police officers, political officials, and judges make decisions based on predetermined racist and some would say ignorant beliefs. For example, my friend was in McDonald’s parking lot and he was in the process of switching seats with his friend because he was exhausted of driving. . The term “driving while black has been used to describe the practice of law enforcement officials to stop African-American drivers without probable cause” (Weatherspoon, 2004). This is one of the leading minority men are pulled over in their vehicle. Which usually leads to a unwarranted stop...
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...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 future, the focus is questions for the present and seeking answers; how much time will I have with my child? How do I handle the problems and pain? Why is my child being punished before they are even born? What did I do wrong? Why won’t anyone tell me how to fix this? In some situations, such as the case study for this paper, these questions...
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...Abstract When a community of followers listens to the heartbeat of God, wondrous things can happen, and it did for The Rock Church & World Outreach Center (ROWOC). God has taught this once exceptionally small group of people to be a Christian church. God told the Pastors to come to a city that was full of sin, pain, in need of the Almighty Savior and filled with poverty. “Pastors Jim and Deborah Cobra had just started the church with a small group of people, and the Lord was already bringing in the broken-hearted, the sick and the maimed” (The Rock Church, 2013). With the promise from Isaiah 12:3, “With joy you will draw water from the wells of salvation”, The Rock Church begins a life-long difference in a broken city. Then after many years, a mother and her son with Down syndrome named “Brian” came to service. The church was developing and expanding its structures at the time. The Pastor was preaching about how the members could help by donations to pay off the upgraded church. Pledges were being made, and Brian was only a young child at the time. He wanted to pledge. He wanted to get involved. His mother was astounded by Brian’s need to be involved. At first, the mother did not think of Brian being able to determine his involvement in the pledge; however she did not want to confuse the love of the Lord that Brian was clearly showing. She did not think it was possible for him to get, but she quickly learned she was wrong. This is when RCWOC decided to make a fully...
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...00+0.00 PIh S0889-4906(90)00019-1 T h e M e d i c a l R e s e a r c h Paper: S t r u c t u r e and Functions K evin Ngozi N w o g u A bstract--Studies i nto the organization of information in the medical research p aper have tended to present accounts of the structure of information in s ections in isolation. The structure of information in all sections of the medical r esearch paper was investigated using Swales' (1981, 1990) genre-analysis m odel. An eleven-move schema was identified, out of which nine were found t o be "normally required" and two "optional". Each schema was found to e mbody "constituent elements" and to be characterized by distinct linguistic f eatures. The study provides insights into the nature of discourse organization in this genre of written discourse. © 1997 The American University. Published b y Elsevier Science Ltd I ntroduction A s with most experimental research reports, the medical research paper is a highly technical form with a standard format for the presentation of i nformation. This format is the division of the paper into "Introduction, M ethods, Results and Discussion" - - the traditional IMRD sections of the r esearch paper. M ost research article writers are familiar with the IMRD format, but not all are conscious of the fact that there exists an internal ordering of the i nformation presented in the various sections of the research article. This l ack of awareness may account partly for the difficulty which...
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...6 Cellular Respiration: Obtaining Energy from Food Muscles in action. Sprinters, like all athletes, depend on cellular respiration to power their muscles. CHAPTER CONTENTS Energy Flow and Chemical Cycling in the Biosphere 92 Cellular Respiration: Aerobic Harvest of Food Energy 94 Fermentation: Anaerobic Harvest of Food Energy 101 CHAPTER THREAD Aerobic versus Anaerobic Lifestyles BIOLOGY AND SOCIETY Marathoners versus Sprinters THE PROCESS OF SCIENCE What Causes Muscle Burn? EVOLUTION CONNECTION Life before and after Oxygen 91 102 103 Aerobic versus Anaerobic Lifestyles BIOLOGY AND SOCIETY Marathoners versus Sprinters Track-and-field athletes usually have a favorite event in which they excel. Some runners specialize in sprints of 100 or 200 meters. Others excel at longer races of 1,500, 5,000, or even 10,000 m. It is unusual to find a runner who competes equally well in both 100-m and 10,000-m races; most runners are more comfortable running races of particular lengths. It turns out that there is a biological basis for such preferences. The muscles that move our legs contain two main types of muscle fibers: slow-twitch and fast-twitch. Slow-twitch muscle fibers can contract many times over a longer period but don’t generate a lot of quick power for the body. They perform better in endurance exercises requiring slow, steady muscle activity, such as marathons. Fast-twitch muscle fibers can contract more quickly and powerfully than slow-twitch fibers but also...
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...Down syndrome: Observing Shannon Submitted by: Alfonse Bowman Arcadia University ED 584: Supporting Students with Low Incidence Disabilities Professor Hopkins Fall 2013 Introduction For our final paper I chose to research trisomy 21 or as it is known clinically, Down syndrome (DS). The primary reason I chose this low incidence disability is because I will make the transition from a regular education teacher to a special education teacher in the spring and I am already familiar with other low incidence disabilities. I realize that with my new role in a self-contained classroom it is important for me to understand the term Down syndrome and then see how the definition and behavioral traits impact the student, the teacher and the other students in an educational setting. This research paper will provide clinical and anecdotal information on DS with real-life observation of a student with Down syndrome. History of Disorder According to the National Down Syndrome Society (2013), during the early nineteenth century, John Langdon Down, an English physician, published an accurate description of a person with Down syndrome. It was this scholarly wok, published in 1866, that earned Down the recognition as the “father” of the syndrome. Although other people had previously recognized the characteristics of the syndrome, it was Down who described the condition as a distinct and separate entity. The United States Department of Health and Human Services Center for Disease Control...
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...Hindawi Publishing Corporation Obstetrics and Gynecology International Volume 2013, Article ID 173184, 11 pages http://dx.doi.org/10.1155/2013/173184 Review Article Uterine Fibroids: Pathogenesis and Interactions with Endometrium and Endomyometrial Junction Andrea Ciavattini,1 Jacopo Di Giuseppe,1 Piergiorgio Stortoni,1 Nina Montik,1 Stefano R. Giannubilo,1 Pietro Litta,2 Md. Soriful Islam,3 Andrea L. Tranquilli,1 Fernando M. Reis,4 and Pasquapina Ciarmela3 1 Woman’s Health Sciences Department, Faculty of Medicine, Polytechnic University of Marche, Via Corridoni 11, 60123 Ancona, Italy Department of Gynaecological Sciences and Human Reproduction, University of Padova, Via Giustiniani 3, 35128 Padova, Italy 3 Department of Experimental and Clinical Medicine, Faculty of Medicine, Polytechnic University of Marche, Via Tronto 10/a, 60126 Ancona, Italy 4 Department of Obstetrics and Gynecology, Federal University of Minas Gerais and National Institute of Hormones and Women’s Health, 30130-100 Belo Horizonte, MG, Brazil 2 Correspondence should be addressed to Andrea Ciavattini; ciavattini.a@libero.it Received 28 February 2013; Revised 10 June 2013; Accepted 13 August 2013 Academic Editor: Hilary Critchley Copyright © 2013 Andrea Ciavattini et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Uterine leiomyomas (fibroids...
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