...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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...Down syndrome Development Psychology Down syndrome Love a four letter word that many will take and throw around as though the word is a ball to be toyed with. One seeks to have someone say “I love you” no matter what their ability is as being mentally challenged or not. A parent does not love his or her child any less if he or she suffers an illness such as that 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...
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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: 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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...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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...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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...Unit II: Genetics Brief Overview Reading: Chapters 3, 4, 9-12, 14 (Note: you have reviewed much of this already) The earth is teeming with living things. We can easily see some of the larger organisms—trees, grass, flowers, weeds, cats, fish, squirrels, dogs, insects, spiders, snails, mushrooms, lichens. Other organisms are everywhere, in the air, in water, soil and on our skin, but are too small to see with the naked eye—bacteria, viruses, protists (single celled eukaryotes such as amoebae), and tiny plants and animals. Life is remarkable in its complexity and diversity, and yet it all boils down to a very simple idea—the instructions for making all this life are written in nucleic acids, usually DNA. Most organisms have a set of DNA that contains the instructions for making that creature. This DNA contains four “letters” in which these instructions are written—A, T, G, and C. The only difference between the code for a dog and the code for a geranium is in the order of those letters in the code. If you took the DNA from a human and rearranged the letters in the right way, you could produce an oak tree—arrange them slightly differently and you would have a bumble bee—arrange them again and you would have the instructions for making a bacterium. Acting through more than two billion years, the process of evolution has taken one basic idea—a molecular code that uses four letters—and used it over and over, in millions of combinations to produce a dazzling array of life forms...
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...Answers to Conceptual Integrated Science End-of-Chapter Questions Chapter 1: About Science Answers to Chapter 1 Review Questions 1 The era of modern science in the 16th century was launched when Galileo Galilei revived the Copernican view of the heliocentric universe, using experiments to study nature’s behavior. 2 In Conceptual Integrated Science, we believe that focusing on math too early is a poor substitute forconcepts. 3 We mean that it must be capable of being proved wrong. 4 Nonscientific hypotheses may be perfectly reasonable; they are nonscientific only because they are not falsifiable—there is no test for possible wrongness. 5 Galileo showed the falseness of Aristotle’s claim with a single experiment—dropping heavy and lightobjects from the Leaning Tower of Pisa. 6 A scientific fact is something that competent observers can observe and agree to be true; a hypothesis is an explanation or answer that is capable of being proved wrong; a law is a hypothesis that has been tested over and over and not contradicted; a theory is a synthesis of facts and well-tested hypotheses. 7 In everyday speech, a theory is the same as a hypothesis—a statement that hasn’t been tested. 8 Theories grow stronger and more precise as they evolve to include new information. 9 The term supernatural literally means “above nature.” Science works within nature, not above it. 10 They rely on subjective personal experience and do not lead to testable hypotheses. They lie outside...
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...I. 진단혈액 진단혈액 수련항목 (1) : 혈액학적검사 기본 술기 표준수련기간 : 1주 수련내용 : ◆ 용어정의 : • 혈액학적검사 : 혈액세포와 응고에 관련된 일련의 검사를 의미한다. 혈구의 체내분포, 구조, 기능에 관련된 검사, 골수에 분포하는 전구세포에 관한 검사, 혈구에 영향을 끼칠 수 있는 혈장 인자에 관한 검사 및 유전자 이상에 관련된 검사 등을 포괄적으로 포함한다. • 망상적혈구수 : 적혈구 성숙 단계 중 정염색성 적아구(orthochromatophilic normoblast) 바로 다음 단계의 세포로 핵이 빠져나간 직후부터를 의미한다. 미토콘드리아, 중심소체(centriole), 리보솜 등을 함유하고 있으며 말초혈액에서 24-48시간의 성숙과정을 거쳐서 성숙한 적혈구로 된다 (Ref. Williams 16th p373-374) ◆ 숙지할 필수 지식 : • 혈액학 검사에 사용되는 검체와 항응고제의 작용기전 및 종류 • 모세관 혈액의 채취 방법과 용도, 채취 시 주의점 및 정맥혈과의 차이점 • 적혈구침강계수(ESR) 검사의 원리 ◆ 습득할 필수 술기 : • Neubauer chamber의 사용 • 미량법(micromethod)를 이용한 헤마토크리트의 측정 • 수기법을 이용한 망상적혈구수 검사 ◆ 국내외 장비 및 시약 현황 : 해당없음 ◆ 추천되는 참고자료 : • 대한혈액학회. 혈액학, 2006. • 대한진단검사의학회 편, 진단검사의학 제 3판, 2001. • Henry, JB. Clinical Diagnosis and Management by Laboratory Methods, 24th ed. 2006. 보고서 제출 일자 : 200 년 월 일 평가자 : 지도전문의 인 (일자 : 200 년 월 일) 과장 인 (일자 : 200 년 월 일) 수련위원 인 (일자 : 200 년 월 일) 진단혈액 수련항목 (2) : 자동 혈구계산기 표준수련기간 : 2주 수련내용 : ◆ 용어정의 : • 헤마토크릿(Hct) : 혈액 전체 부피에 대한 적혈구 부피의 비율, 단위는 % 또는 L/L • 평균적혈구용적(MCV) : 적혈구의 평균 용적, 단위는 fL, • MCV = Hct (L/L) X 1,000/RBC count (X1012/L) • 평균적혈구혈색소(MCH) : 적혈구 한 개당 혈색소 양, 단위는 pg, • MCH = hemoglobin (g/L)/RBC count (X1012/L) • 평균적혈구혈색소농도(MCHC) : 적혈구 한 개당 평균 혈색소 농도, • 단위는 g/L, MCHC = hemoglobin (g/L)/Hct (L/L) • 적혈구분포지수(RDW)...
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