Tay-Sachs Disease Essays - Lipid Storage Disorders, Rare Diseases

Tay-Sachs Disease Tay-Sachs disease is a fatal, genetic disorder of the nervous system. There is no treatment. Tay-Sachs was first identified in the 1880's by two physicians. Dr. Bernard Sachs of the United States has found a "cherry-red" spot in the eyes of a patient. That patient later died. After searching medical literature, he found Warren Tay of great Britain had also reported this (Information, 1994). The symptoms of Tay-Sachs disease appear after about six months. At first, the patient has an over-exaggerated "startled" reaction to sounds and begins to loose control of its head. Eventually, it cannot roll over or sit without help. Dementia (uncontrolled laughter) may set in and the head grows abnormally large. The baby then becomes blind, and dies, usually before its 5th year (Seely et al, 1992). Tay-Sachs disease is an autosomal, recessive disorder caused by a deficiency in B-hexosaminidase A. Being an autosomal recessive disease, Tay-Sachs can only be passed on in its fatal form if both parents are heterozygous for the disease. If both parents are heterozygous for Tay-Sachs, there is a one in four chance of the infant having the disease. If only one parent is heterozygous, the infant has a one in two chance of being a carrier (heterozygous) for the disease(Mahany et al, 1994). In 1962, researchers found B-hexosaminidase A is responsible for the breakdown of ganglioside (gm2) in nerve cells. Ganglioside is a lipid found in modest levels in nerve cell membranes. It is constantly being synthesized and broken down. Without the B-hexosaminidase A to break down the gm2, the cells swell up and eventually burst( Diamond, 1991). B-hexosaminidase A is composed of two amino acid chains, the alpha and the beta chain(Navon et al, 1989). The gene responsible for the manufacture of B-hexosaminidase A was originally thought to be located on chromosome 7(Gilbert et al, 1975). It was later determined that the gene for the alpha chain is located on chromosome 15, and the beta chain gene is located on chromosome 5( Chern et al, 1976). In 1991, with the use of a cDNA clone, it was determined the alpha chain gene is located at 15q23-q24(Nakai et al, 1991). All forms of Tay-Sachs disease are caused by mutations in the alpha chain of the enzyme(Navon et al, 1989). The alpha chain of B-hexosaminidase A is about 35 kilobases long and split into 14 exons(Proia and Soravia, 1987). There are at least thirty different mutations that cause Tay-Sachs disease. A majority of the classical (infantile) form of the disease that is found in the Ashkenazi Jewish population is caused by one of two different gene mutations( Triggs-Raine et al, 1990). The first one, Tay Sachs disease [HexA, 4-BP INS, EX11] accounts for about 70% of heterozygous carriers in the Ashkenazi population. The mutation introduces a 4-basepair insertion into exon 11, which causes a premature termination signal. This results in a deficiency of mRNA. The 4-basepair insertion causes a frameshift which makes a termination codon 9 nucleotides down from the insertion (Myerowitz and Costigan, 1988). This mutation is also prevelant in the southwest Louisiana Cajun population. In the last three decades, 8 infants from 6 unrelated families have been diagnosed with Tay-Sachs disease. With 12 heterozygous carriers in the 6 families identified, 11 were carriers of the exon 11 mutation. The other mutation was of a form of Tay-Sachs disease found in the French-Canadian populations. The second mutation is Tay-Sachs disease [HexA, IVS Another form of Tay-Sachs disease is Adult onset Tay-Sachs [HexA, GLY269SER]. This form of Tay-Sachs is caused by an amino acid substitution in the alpha chain of the B-hexosaminidase A molecule. Glycine is substituted serine at position 269 in the HexA subunit. This is caused by a G to A substitution at the 3-prime end of exon 7 (Navon and Proia, 1989). Unlike infantile Tay-Sachs disease, Adult onset Tay-Sachs disease is not always fatal. While the former causes a rapid degeneration of the central nervous system, the latter causes a slower degeneration. This makes a normal

Trabalenguas or Spanish-Language Tongue Twisters

Trabalenguas or Spanish-Language Tongue Twisters Think you have your Spanish pronunciation down? If so, test your skills with the tongue twisters below. If they seem too easy, try repeating them rapidly. Even if youre a native speaker, youre likely to be tripped up sooner or later. Incidentally, the Spanish word for tongue twister is a compound noun, trabalenguas, or (loosely translated) thing that ties tongues. Like most other compound nouns, it is masculine. Tongue Twisters Based on Words With ‘P’ Poquito a poquito Paquito empaca poquitas copitas en pocos paquetes. (Little by little, Paquito packs a few tiny glasses in a few packages.) Pepe puso un peso en el piso del pozo. En el piso del pozo Pepe puso un peso. (Pepe put a peso on the floor of the well. On the floor of the well Pepe put a peso.) Pepe Peà ±a pela papa, pica pià ±a, pita un pito, pica pià ±a, pela papa, Pepe Peà ±a. (Pepe Peà ±a peels potatoes, cuts pineapple, blows a whistle, cuts pineapple, peels potatoes, Pepe Peà ±a.) En la poblacià ³n de Puebla, pueblo muy poblado, hay una plaza pà ºblica poblada de pueblerinos. (In the city of Puebla, a very populated town, there is a public plaza populated with Pueblans.) El hipopà ³tamo Hipo est con hipo.  ¿Quià ©n le quita el hipo al hipopà ³tamo Hipo? (Hipo the hippopotamus has a hiccup. Who is curing the hiccup for the hippopotamus Hipo? Tongue Twisters Featuring Other Hard Consonant Sounds  ¡Quà © triste ests, Tristn, con tan tà ©trica trama teatral! (How sad you are, Tristn, with such a gloomy theatrical tale! Una cacatrepa trepa tiene tres cacatrepitos. Cuando la cacatrepa trepa trepan los tres cacatrepitos. (A climbing caterpillar has three baby caterpillars. When the climbing caterpillar climbs the three baby caterpillars climb.) Como poco coco como, poco coco compro. (Since I eat little coconut, little coconut I buy.) Comprà © pocas copas, pocas copas comprà ©, como comprà © pocas copas, pocas copas pagarà ©. (I will buy few drinking glasses, few drinking glasses I will buy, as I will buy few drinking cups, few drinking cups will I pay.) Toto toma tà ©, Tita toma mate, y yo me tomo toda mi taza de chocolate. (Toto drinks tea, Tita drinks mate, and I drink up all my cup of chocolate.) Cuando cuentes cuentos, cuenta cuantos cuentos cuentas, porque si no cuentas cuantos cuentos cuentas nunca sabrs cuantos cuentos cuentas tà º. (When you tell me stories, tell me how many stories you tell me, because if you dont tell me how many stories you are telling me, you will never now how many stories you are telling me.) El amor es una locura que solo el cura lo cura, pero el cura que lo cura comete una gran locura. (Love is a great lunacy that only a priest can cure, but the priest who cures it commits a great lunacy.) Tongue Twisters Featuring Soft Consonant Sounds Ñoà ±o Yà ±ez come à ±ame en las maà ±anas con el nià ±o. (Ñoà ±o Yà ±ez eats yams in the mornings with the boy.)  ¡Esmerà ­lemelo! (Polish it for me.) Eugenio es muy ingenuo.  ¡quà © genio tiene el ingenuo de Eugenio! (Eugene is very naive. What genius has the naivete of Eugene!) Busco al vasco bizco brusco. (Im looking for the rude cross-eyed Basque.) El nià ±o est sosegado.  ¿Quià ©n lo desasosegar? El desasosegador que lo desasosiegue, buen desasosegador ser. (The child is tranquil. Who will disturb him? The disturber who disturbs him will be a good disturber.) Si don Curro ahorra ahora, ahora ahorra don Curro. (If Curro is saving now, now is Curro saving.) El suelo est enladrillado.  ¿Quià ©n lo desenladrillar? El desenladrillador que lo desenladrillare un buen desenladrillador ser. (The ground is paved with bricks. Who will unpave it? The unpaver who unpaves it a good unpaver will be.) Tres tristes tigres comà ­an trigo en tres tristes platos sentados en un trigal. (Three sad tigers were eating wheat on three sad plates placed in a wheat field.) Por la calle Carretas pasaba un perrito; pasà ³ una carreta, le pillà ³ el rabito.  ¡Pobre perrito, como lloraba por su rabito! (A puppy walked through Carretas street; a cart passed by and ran over his dear tail. Poor puppy, how he cried for his dear tail!) La sucesià ³n sucesiva de sucesos sucede sucesivamente con la sucesià ³n del tiempo. (The successive series of events occurs successively with the succession of time.)

Strategic Marketing Project ( Marketing plan for Emarates Airline) Essay

Strategic Marketing Project ( Marketing plan for Emarates Airline) - Essay Example nce in those countries which are not being served by other airlines as they have minimal connection to the global transportation network via airlines, Emirates provide services to those countries as well that lack local flag carrier. Although the aviation industry worldwide is shrinking because of strategic alliances among different airlines but Emirates continue to integrate into any kind of alliance as it still believes in serving as an independent carrier. The airline has boldly faced the allegations imposed by the alliance airlines and it is the key area of concern for the airline. It has seeked assistance from the political parties and concerned aviation policymakers to safeguard the independent carriers by making such policies that they are not deprived of serving the destinations which are dominated by the alliance airlines. Despite these allegations, Emirates has to address the issues of rising fuel prices and threat from new entrants i.e. Qatar Airways and Etihad Airways. Hence, Emirates Airline is still providing excellent service to its customers by not changing its pricing policy and still maintaining the low-cost competitive profile. Since the management of Emirates Airline is following everything strategically, the airline has more bright chances of future expansion which will enhance the quality level of the airline’s service. Emirates Airlines is one of the top-ranked and most successful airlines in the world. The largest airline started its operations from Middle East and since then it has played an inevitable role in enhancing the image of United Arab Emirates (UAE). UAE was always considered as the state which has rich supply of oil but now because of Emirates Airlines it has become the best hub for tourists. Minisri reported on Emirates Airlines that it is growing at an accelerating rate within the airline industry and is giving a tough competition to its competitors. According to Minisri, the competitors are concerned about the success of

Company is on Marriott International and how they market to consumers Term Paper

Company is on Marriott International and how they market to consumers on the internet - Term Paper Example Marriott International website has been professionally designed. The web site has been decorated beautiful pictures of tourists enjoying themselves at the hotel. Customers can immediately identify the destination that suit their tastes and preferences by looking at the pictures displayed. The website links and menus have been well organized into Marriot hotel brands, careers, travel agents, group partners, shopMarriot, affiliates and mobile and many more colorful and attractive links. In addition, the writings on the website are visible, they have been written using visible fonts and designs that are attractive to customers (Marriot, 2012). Customers can access the website through the facebook sign up and login link. Marriott International is also available through twitter. Customers can email or ask a question to the Marriott International customer service through the website. Further, the website gives opportunity to customers to book accommodation online. Customers can by book accommodation through PayPal, MasterCard and visa by placing their orders online; they can also view the status of their order by entering their email and a confirmation number (Marriot, 2012). Marriot international has recently unveiled internet distribution and growth strategies aimed at reaching several tourists as possible. The company has put in place measures to ensure that customers get the best room price when they use their website for reservations. Internet marketing is instrumental to the company because it ensures that 8 percent of the total room nights are sold (Maandag, 2008). The site creates a positive customer experience since they can get attractive discounts. Tourists are able to get 40% off fall travel when they book early. Tourists can also locate hotels in various cities around the world; this is possible through the â€Å"find hotel† interface in the website. Further, the company has introduced

Alice Walker’s the Welcome Table Essay Example for Free

Alice Walker’s the Welcome Table Essay Alice Walker’s The Welcome Table is a short story that gives a historical and cultural look at how segregation in the south influenced people’s lives. The story portrays an old black woman as the main character. It has plot, setting, characters, symbolism, theme, tone and imagery that the author skillfully narrated in the third person omniscient point of view to create the story. The reader experiences an insight into behavior that was caused by segregation in the State of Georgia in the south. â€Å"The reverend of the church stopped her pleasantly as she stepped into the vestibule†¦..†Aunty, you know this is not your church?†Ã¢â‚¬ ¦.Inside the church she sat on the very first bench from the back.† (Clugston, 2010) Head of the congregation the reverend instigates the act of religious segregation and without further prompting; his congregants willingly follows. The story also portrays the church people’s mindset to maintain religious segregation even in the act of worship. â€Å"They looked with contempt †¦.at the old woman†¦could their husbands expect them to sit up in church with that? No, no†¦Ã¢â‚¬  (Clugston, 2010) The narrator uses strong descriptions to recreate the era and to pull the reader into the story. It really shows how segregation influences people in their everyday life. Black slaves were freed. However, black and white people remained segregated because segregation was the way of life for the people during that period in Georgia. The system of segregation demanded that black people had to sit in the back of public busses and the old woman in the story knew her place because she freely sat at the back of the church. â€Å"Inside the church she sat on the very first bench from the back,† (Clugston, 2010). Religious segregation is the main theme. The song at the beginning of the story sets the tone and pulls the reader into the south where ex-slaves sang Negro spirituals for comfort. â€Å"I’m going to sit at the Welcome table; Shout my troubles over; Walk and talk with Jesus; Tell God how you treat me; One of these days!†(Clugston, 2010) Religious segregation was a major part of the culture in Georgia and it is the theme of this story; in that the author details the harsh cold manner in which it affects people. The spiritual at the beginning points to hope to one day experience welcome (acceptance), to sit and talk with Jesus who both the blacks and whites are worshipping but cannot do so under the same roof. In other words, the song is an expression of hope that segregation will end. The black old woman braves freezing temperature, without warm enough clothing to go to the house of worship. Winter represents death, stagnation and sleep (Clugston, 2010) and the old black woman represents slavery. The black old woman, symbolizing slavery is almost blind and almost dead. Yet she is determined to struggle through the freezing cold to push past the reverend, and ignore the young usher to seat herself in the whites only church. â€Å"She brushed past him anyway, as if she had been brushing past him all her life, except this time she was in a hurry. Inside the church she sat†¦It was cold, even inside the church†¦.† This act by the dying old black woman is symbolic of the ex-slaves’ struggle to conquer the final frontier of segregation more so religious segregation. The author uses symbolism in this case to represent the people’s behavior towards the old woman and her determination to have her way. The Author skillfully uses imagery to tell a powerful story The Welcome Table. The very beginning paints a picture of the main character. â€Å"In her Sunday-go-to-meeting clothes:†¦.head rag stained with grease from the many oily pigtails underneath,† What seems like a simple description of her clothes contained words that contributed to the painting of the picture. Then on the other hand the ladies of the church required a different set of adjectives. â€Å"Leather bagged and shoed, with calfskin gloves to keep out the cold.This done, the wives folded their healthy arms across their trim middles†¦Ã¢â‚¬  This vivid contrast also represents the religious disparity between the black people and the white people even though they are both worshipping the same god. â€Å"The reverend of the church stopped her pleasantly as she stepped into the vestibule†¦..†Aunty, you know this is not your church?†Ã¢â‚¬ ¦.Inside the church she sat on the very first bench from the back.† (Clugston, 2010) The black old woman, symbolizing slavery is almost blind and almost dead. Yet she is determined to struggle through the freezing cold to push past the reverend, and ignore the young usher to seat herself in the whites only church. Alice Walker’s The Welcome Table gives a historical and cultural look at how segregation in the south influenced people’s lives. The author skillfully narrated in the third person omniscient point of view to create the story. The reader experiences an insight into behavior that was caused by segregation in the State of Georgia in the south. The spiritual at the beginning points to hope to one day experience welcome (acceptance), to sit and talk with Jesus who both the blacks and whites are worshipping but cannot do so under the same roof. In other words, the song is an expression of hope that segregation will end. REFERENCE Clugston, W. R., (2010). Journey Into Literature, San Diego, CA: Bridgepoint Education Inc. Barnet, S., Berman, M., Burto, W., (1967) An Introduction to Literature 3rd Edition Toronto, CAN:Little, Brown and Company Inc.

Java :: essays papers

Java Java is the substance whose aroma is awakening the Internet community. It is a new programming language developed by Sun Microsystems that has much in common with the beverage that shares its name. It's good, it's hot, and people know it around the world. Java (the programming language) beats the other stuff hands down though, it's free. Many have heard of Java, yet few know what it is, or what it can do. It certainly has the potential to become a part of our everyday lives, existing in our mobile phones, televisions, and Internet browsers. If you are interested in your future read on. Java is still in its infancy stage, yet to fulfil its intended purpose. Designed in 1990 as an embedded language for consumer electronics, it was later discovered to be an ideal interface to the Internet. In 1996, Netscape added Java support to its popular Navigator Web browser. The Web began to stir from its static text coma as excited programmers began to incorporate Java applications, "applets", into their Web pages. An applet is like an application, but it doesn't run stand-alone. An applet must adhere to a set of conventions that allows it to run within a Java-compatible browser. The technology is still evolving, and today, most Java applets are simple animations, or user interactions. The future is brighter, promising full-blown applications over the Internet; imagine using Microsoft Office from your television. For now, though, those who have experienced an applet may be left disappointed. A casual user is unlikely to be impressed with scrolling text, or simple animations, especially if they must pay for them with increased download times. Behind the scenes, unbeknownst to them, truly amazing things are happening. A Java applet begins its life by being "called" by a Web page. To be technologically correct, the applet is embedded in the Web page. The Web browser then downloads the applet and runs it on your machine. If you just missed the amazing part: it runs on your machine. How can a program from an unknown source be trusted to run on your computer without your permission? It can't unless that program was created using a secure language like Java, and then wrapped with a secure viewing browser like Netscape Navigator. The concept of being able to run applications on your system is significant for several reasons. If you want to see a picture, but don't have a picture viewer, you can get both at once.

Loreal Marketing

Principles of Marketing L’Oreal 1. The core, tangible and augmented products L’Oreal sells. The core product of the hair care products sold by the company includes the customers feeling good about themself after using the product. The tangible is he physical hair care product e. g. bottle, what the product claims to do for e. g. more shiny hair. 2 L’Oreal’s marketing managers have key branding decisions they must make. These include selecting a brand name and going onto getting a brand strategy.L’Oreal would need to decide on the branding in terms of what name to use and the icon to go with it. Brand strategy includes: Multibrand, range branding, corporate branding, company and individual branding strategy. Multibrand strategy includes bringing out more than one product in one product category. Range branding strategy involves the company deciding to introduce more than one different product to the same category of products however having a differen t name for products in different areas of the market.Corporate branding involves the company choosing to include just one brand for all the products introduced to the market and company and individual branding strategy includes that the company brand is included on all the products in the market however each product also has its own brand name. L’Oreal would be required to make the decision of what marketing brand strategy to use, For e. g. they may choose to introduce a new hair care product to the market and use a corporate brand strategy where they use the L’Oreal brand all products.L’Oreal also have other branding decisions including the branding position, name selection, brand sponsorship and development. L’Oreal must decide on its brand positioning. This includes the products attributes, benefits and beliefs and attitudes of the product. The attributes include what the hair care products attributes are for e. g. the healthy ingredients in the hair c are products. Benefits include what result the customers would expect from the attributes of the product. For e. g.L’Oreal’s benefits may be shiny hair due to the ingredients in the product. L’Oreal may however choose a brand positioning of beliefs and attitudes. L’Oreal would also need to make decisions on the brands name. This includes making decisions towards the brand name in order to ensure that the brand name is easy to memorise, say and identify. 3 The considerations L’Oreal faces in determining global product decisions include adapting their products to suit the various cultures of various countries the hair care products are being marketed in. For e. g. the pa