...What is fragile X syndrome? Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorders that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) after puberty. How common is fragile X syndrome? Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females. What genes are related to fragile X syndrome? ...
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...X Resources: http://www.labcorp.com http://www.geneticdiseasefoundation.org http://www.fragilex.org http://www.nfxf.org/ Taylor Smallshaw Although there is no cure, special education, speech therapy, occupational and behavioral therapy could offer help to someone diagnosed with Fragile X. Additionally, there are medical treatments for aggression, anxiety, hyperactivity, and poor attention, which are common characteristics of Fragile X. Syndrome. There is no cure for Fragile X Syndrome. Treatment Fragile X Syndrome is a sex-linked inheritance of mental retardation. Although it can be found in all ethnic groups, it is predominantly found in males. There are physical and behavioral symptoms of Fragile X. There is no cure for this disorder, however there are many treatments in which a patient suffering from Fragile X can participate. Key Facts Praesent congue sapien sit amet justo. Fragile X Syndrome = Frequency of Fragile X Fragile X Syndrome can occur in all types of ethnic groups. However, it differs in the prominence in different genders. Because it is a sex-linked dominant gene, more males will be affected by this disorder. An estimated 1 in 4000 males are affected and 1 in 6000 females. One in 100/250 women are carriers for the gene. These female carriers often suffer from infertility and early menopause. Fragile X Syndrome is one of the most common forms of inherited mental retardation. Fragile X Syndrome is a sex-linked dominant...
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...Fragile X Syndrome (FXS) is caused by the mutation of the Fragile X Mental Retardation Gene. Although there has been some debate over the prevalence rate, the majority of researchers state that FXS is prevalent in 1 out of 4,000 individuals. FXS can lead to a range of social and cognitive impairments, and it is one of the most frequent genetic causes of intellectual disabilities (Bagni, Tassone, Neri, & Hagerman, 2012). Individuals with FXS tend to exhibit hyperactive traits, attention deficits, language development difficulties, communication problems, visual-spatial processing deficits, and social anxiety (Reiss & Hall, 2007). Behavioral symptoms may include aggression, tantrums, self-injury, and repetitive behaviors (Newman, Leader, Chen, & Mannion, 2015)....
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...The genetic disorder I will be researching and writing on is the Fragile-X Syndrome. Fragile-X Syndrome is one of the most commonly known and inherited types of neonatal genetic disorders and mental retardations. Among the name fragile-x syndrome, it is also known by a few other names. For example, a couple of the other known names are: FXS, FRAXA, and Martin-Bell Syndrome. FXS greatly impacts areas of the brain. The disease does not directly affect the brain as a whole, but renders the body incapable of producing enough of a specific protein vital for the development of the brain. Fragile-X syndrome is existent when there is a mutation in the FMR1 gene. The FMR1 gene is essential for cognitive development as well as female reproductive function. The syndrome is caused...
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...Fragile X Syndrome is a genetic condition involving a change in the part of the X chromosome. This causes developmental problems like learning disabilities and cognitive struggles Fragile X Syndrome is the most inherited form of severe neurodevelopmental. This is caused by expansion of CGG repeating itself on the FMR1 gene. Therefore, this leads to a disappearing of a certain protein. This defect causes further symptoms and abnormalities in someone future that lies ahead. Mutations change in the FMR1 gene causing fragile x disorder. This gene carries instructions on how to make a protein called Fragile X Mental Retardation 1 protein. Sections of DNA do not repeat themselves. This occurs when FMR1 on the long arm of the x chromosome, shuts down and fails to create a protein called FMRP. There are many symptoms that come along with Fragile X Syndrome being physical, mental, and emotional. For both male and female, signs start showing more around the time they hit puberty. They also differ between genders and are more severe for males. Some physical features include a long and narrow face, large ears, a prominent jaw and forehead, flexible fingers, and flat feet. Other symptoms include intellectual disability, delayed speech and...
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...fractures occur before reaching puberty, but can sometimes occur to women when they enter the menopause phase. A unique part of this subdivision is that it can cause curvature of the spine also known as Scoliosis. The face is also affected by having a triangular face, blue sclera, and a lot of dental problems. The disease can also cause hearing loss by the time they are in their 20s or 30s. Another similarity it shares with the other subdivisions of the disease is that it runs in the family. Type I is also known as Lobstein Disease (“Osteogenesis Imperfecta-Bone Diseases and Disorders”). Type II affects only 10% of the people with Osteogenesis Imperfecta, but it is the most severe and most deadly. People who have this disease have extremely fragile bones and are prone to deformities. The cause of this is a genetic...
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...Williams presents Blanche as very fragile, both mentally and physically. Her fragility steadily progresses throughout the play and Williams makes it clear that she is a character that is easily broken through many different aspects of the play. Williams’ use of stage directions, her appearance, speech, actions and interactions with other characters shows her to be quite an unstable character. Her physical appearance at the beginning of the play alone portrays her fragility by the way that she is compared to a moth. It is ironic that Williams likens her to a moth because they are typically attracted to light whereas Blanche’s “delicate beauty must avoid a strong light.” However this links with the idea that Blanche is fragile because she can’t help but be attracted to things that will harm her. Williams’ use of stage directions shows that Blanche is fragile by her constant nervous gestures and how she is easily scared or startled by small things. This can be seen where “She catches her breath with a startled gesture” after hearing a cat screeching and also by how she constantly “touches her forehead shakily” or touches her handkerchief to it. These actions show that she is nervous and constantly on edge, suggesting that she is afraid of something. This has a big effect on her mental state, which gradually breaks down as the play progresses. By the end of the play her nervous gestures seem to be more desperate, which can be seen where she “tries to break past the matron”. She...
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...arch, delicate heel as well as the material used to create it, clear glass befitting a rare, crystal vase. Moreover, its clearness permits Cinderella to expose her similarly delicate and dainty foot, a quality long associated with beauty especially in Oriental cultures. Created out of glass, the slipper stands as a signifier for the ambivalent notion of beauty proposed by a masculinist culture - epitomized by the phallic towers of the castle - at the heart of the tale, a culture that permits the Prince to select his bride based solely on beauty. Therefore, more specifically, the slipper, in a sense, represents the pain associated with beauty. Encased in the fragile glass and perched upon a thin spiked heel, Cinderella’s foot suffers pain. Moreover, should this fragile glass crack, the splinters would sever her tender flesh exposed for all its beauty by the transparent glass. So ultimately, the slipper symbolizes the harmful side of beauty, a contention further alluded to in the fiction by the cause of the step-sisters great dislike for and mistreatment of Cinderella: jealousy of her luminescent beauty. Thus, over and over the fiction affirms the dangers and pain of beauty, a notion reinforced by the slipper’s symbolic significance, a focus that allows...
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...How does Tennessee Williams present the character of Blanche in Scene 1 of the play? In scene 1 of the play ‘A Streetcar Named Desire’, Tennessee Williams presents Blanche as a dependent character who relies on the company of others but attempts to keep this insecurity hidden. Although Blanche may appear to be dominant and outspoken, she secretly fears to be alone. The command ‘You hear me? I said stand up!’ establishes Blanche’s authority and gives the impression of dominance however this highly contrasts with Blanche’s statement ‘I want to be near you, got to be with somebody, I can’t be alone!’ The contrast of these two statements highlights the dynamics of their relationship as it suggests Blanche is more reliant on Stella than she makes out to be. Williams has done this in order to reveal Blanche’s true character to the audience by illustrating her fears of being ‘alone’ which clearly establishes how dependant she is on her sister. Tennessee Williams depicts Blanche’s jealousy of her sister’s marriage and appearance which illustrates her as an envious and insecure character. This is evident after Blanche confesses the loss of Belle Reve and how she was forced t o deal with the unfortunate situation alone. Blanche questions Stella ‘Where were you! In bed with your – Polack!’ to defend herself and place blame on Stella. This illustrates Blanche’s jealousy over how Stella was able to escape and start off a new life in New Orleans and find security in a marriage while she has...
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...Fragile X syndrome Structure 1. What is Fragile X syndrome 2. What causes fragile X syndrome 3. Features 4. How to cure fragile X syndrome Composition Fragile X syndrome, also known as Martin-Bell syndrome, or Escalante's syndrome, is a genetic syndrome. Nearly half of all children with fragile X syndrome meet the criteria for a diagnosis of autism. It is an inherited cause of intellectual disability especially among boys. It results in a spectrum of intellectual disabilities ranging from mild to severe. Fragile X syndrome is caused by a defect in the FMR1 gene located on the X chromosome. The X chromosome is one of two types of sex chromosomes. The other is the Y chromosome. Women have two X chromosomes, so women have a healthy X to detect the defective one, but men only have one X chromosome and one Y chromosome, so fragile X syndrome is therefore much more pronounced in boys, girls are more likely to be carriers. People with fragile X syndrome may show a combination of the following signs as children and throughout life like developmental delays, such as taking longer than normal to learn to sit, walk, or talk compared with other children of the same age, stuttering, intellectual and learning disabilities, such as having trouble learning new skills or information, anxiety, autism, impulsiveness, attention problems, social problems, such as not making eye contact with other people, disliking being touched, and trouble understanding body language, hyperactivity...
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...Genetically Transmitted Disorders Introduction Genetics originated in the mid-19th century when Gregor Mendel discovered over a ten year period of experimenting with pea plants that certain traits are inherited. His discoveries provided the foundation for the science of genetics. Mendel's findings continue to spur the work and hopes of scientists to uncover the mystery behind how our genes work and what they can reveal to us about the possibility of having certain diseases and conditions. The scientific field of genetics can help families affected by genetic disorders to have a better understanding about heredity, what causes various genetic disorders to occur, and what possible prevention strategies can be used to decrease the incidence of genetic disorders (Pitman, 2002). What is Heredity? Why do children look like their parents? Why do brothers and sisters resemble each other? This is because we “inherent” traits from our parents. The passing of traits from parents to child is the basis of heredity. Traits are physical characteristics. Eye color, nose shape, and many other physical features are some of the traits that are inherited from parents (Kristine & Stewart, 2007). What is genetics? Genetics is the science that studies the mechanics of heredity, or the means by which traits are passed from parents to offspring. Through genetics a number of specific disorders have been identified as being genetically caused (ibid, 2007). Dominant Inheritance ...
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...ROLL NO.:-1402014725 MAIL ID: viveksrivastav595@gmail.com SUBJECT CODE:-MB0044 SUBJECT NAME: PRODUCTION AND OPERATIONS MANAGEMENT NAME: VIVEK SRIVASTAV SEMESTER: 2ND QuesNo.1) People’s productivity key to Indian manufacturing competitiveness: Boston Consulting Group. Namrata Singh, TNN/Mar14, 2013, 9.34 PM 1st Mumbai: People productivity is the key to Indian manufacturing competitiveness says a report by the Boston Consulting Group (BCG). In most global people productivity surveys, not only does people productivity of Indian manufacturing sector lags developed nations such as US and Japan but also lags in most manufacturing sectors to China. While earlier, many explained this to differences are not only rapidly shrinking, but they do not fully explain the significant gaps in productivity that exists. Skill gap and engagement gap are the two critical factors that explain lower productivity leads to improved skills and better working environment- thus paving the way for higher investments and faster economic growth therefore it is critical for the Indian manufacturing sector to work toward enhancing people productivity to achieve the goals it has set for itself,” the report says. The subject gains importance in the backdrop of a slowdown in western economic countries & China, as well as cost increases in China. Indian manufacturing sector stands at the cusp of a tremendous opportunity. After reading the case study answer the following questions: a) What...
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...Before reading this, please note that i have the bibliography for it but it didn't let me upload it for some weird reason. Literacy Essay on “Lord of the Flies” By: Mario A Calderon Vargas In William Golding’s adventure novel, Lord of the Flies, a group of boys on a flight are shot down and crash into an Island. The beast is a recurring symbol used to parallel the boys’ transition into savages. Although they first thought the monster was real, they slowly realized the beast is a figment of their imagination. The beast was created from a littlun, however the group of boys thought that it was only a bad nightmare. Eventually it was then made to be a symbolic figure formed from their fears. As they evolve, they grasp the fact that the beast they are seeing is assuredly themselves. In the beginning of the novel, the beast is introduced as a nightmare from a littleun. The boys begin to have beliefs over the existence of the beast. They have nightmares and their imagination gets the best of them. At this point, the boys believe the monster is real. “Before them, something like a great ape was sitting asleep with its head between its knees. Then the wind roared in the forest, there was confusion in the darkness and the creature lifted its head, holding towards them was a ruin of a face.” (Golding, page 135), this quote showed the boys irrational thinking that the beast is real. Throughout the novel the boys interpret the beast as nightmare. All of the sudden they begin to...
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...SUMMARY OF THEORETICAL READINGS CHAPTER 5: Design of Goods and Services BUS 502: Design of Goods and Service Many companies create variety of efficient and competitive ideas about their products and services to meet changing customers demand or target specific customer niches. Companies quickly design and create new innovations or new models to appeal to a variety of market niches. They also use new strategies and production techniques to make their product and service more competitive and satisfying to the customers. Product strategy defines the distance or length of the product line and links product decisions to investment and cash flow, market share and dynamics, product life cycle, and the organizations capabilities. GOODS AND SERVICES SELECTION Most companies concentrate or focus in selection of goods and services or product decision. They focus on creating a competitive advantage thru by differentiation in which companies’ can offer unique and high quality products, lower cost than their competitors, and rapid response to customers demand about executing rapid design and product development. Most of the companies give more attention or focus on product life cycle and strategy. Strategies change as product move through their life cycle. Product strategy involves selecting the best strategy for each product based on its position in the life cycle while product life cycle can be divided into four phases. In the introductory phase, product expenses are mostly high...
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...Generational Influences on Learning Myra R. Nickles Webster University Generational Influences on Learning Overview/Summary of Article written by Sandra Gibson: E N H A N C I N G: Intergenerational Communication in the Classroom: Recommendations for Successful Teacher-Student Relationships and article written by Lynn Lancaster and David Stillman: From World War I to the World Wide Web: traditionalists, baby boomers, generation Xers and Millennials at work. The article written by Lynn Lancaster and David Stillman: “From World War I to the World Wide Web: traditionalists, baby boomers, generation Xers and millennials at work” is an excerpt from a book written by Lancaster and Stillman entitled , “When Generations Collide: Who They Are. Why They Clash. How to Solve the Generational Puzzle at Work.” This article discusses four separate distinct generations that make up the modern day workforce. The Traditionalists or individuals born between 1900 and 1945 make up approximately seventy-five million people. The largest population ever born in this country, the Baby Boomers, born between 1946-1964, total approximately eighty million. The smallest numbered group of approximately forty-six million, the Generation Xers, were born between 1965-1980, and the Millennials, born between 1981-1999, make up of approximately seventy-six million. Lancaster and Stillman, (2003). Sandra Gibson in her article, “E N H A N C I N G: Intergenerational Communication in the Classroom: Recommendations...
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