Hurler Syndrome Disease

Hurler Syndrome Disease Hurlers Syndrome In a persons body every substance is important and should present the right amount of itself to function properly. In this case a very rare inherited disease of metabolism is when a person cannot break down long chains of sugar molecules called glycosaminoglycans. This disease is known as Hurlers Syndrome which is part of a larger group of diseases more commonly referred to as MPS. Other names for Hurlers Syndrome are alpha-L-iduronate, Mucopolysaccharidoss Type 1, and MPS1H. Other MPS diseases are Hurler Scheie Syndrome, which is a milder feature of Hurler Syndrome, Maroteaux-Lamy Syndrome, whose features are very similar to Hurler Syndrome and Sly Syndrome, whose phenotype is similar to that of Hurler Syndrome. Unfortunately, there are many more syndromes within the MPS disease category. Hurlers Syndrome is named after Gertrud Hurler, who was the doctor that described both a boy and a girl with the condition in 1919. Dr. Scheie was a consultant ophthalmologist and in 1962 he wrote about some of his patients who were less severely affected than those previously diagnosed by Dr. Hurler. Those patients who could not be clearly diagnosed as either the severe or milder end of the disease were said to have Hurler Scheie Syndrome. When you have Hurlers Syndrome, your body does not make a substance called lysosomal alpha-L-iduronidase. This means that a person without lysosomal alpha-L-iduronidase cannot break down long chains of sugar molecules which are used in the building of connective tissues in the body. The sugar molecules are usually found in mucus and in fluid around a persons joints. â€Å"There is a continuous process in the body of replacing used materials and breaking them down for disposal.† What does break down long chains of sugar molecules is a substance called alpha-L-iduronidase enzyme. â€Å"This is essential in cutting up the mucopolysaccharides called dermatan and heparin sulphate. The incompletely broken down mucopolysaccharides remain stored in cells in the body causing progressive damage.† A result of not having the alpha-L-iduronidase enzyme is that glycosaminoglycans will build up and damage a persons heart and organs. Symptoms of this disease can be mild or very severe. Hurlers Syndrome is a disease inherited from both parents which means that both parents have to pass the gene to their child in order for the child to have the disease and any child of any race can have it. When a child is born you cannot really tell that they have the disease because they appear healthy at birth. â€Å"Babies may show little sign of the disease, but as more and more cells become damaged, symptoms start to appear.† Most of the symptoms are thick coarse facial features with low nasal bridge, halted growth, progressive mental retardation, cloudy corneas, deafness, joint disease including stiffness, heart valve problems, abnormal bones in the spine, chronic runny nose, hernia, speech problems, hyper activity, depression, pain, and clawed hands. Most people do not notice the facial symptoms until the child is at the age of two. To tell if a person has Hurlers Syndrome, doctors usually do a simple urine test. The test would show extra mucopolysaccharides, but docto rs would not be able to tell what form of MPS that the person has. Thus, Hurlers Syndrome is not diagnosed until many other conditions have been looked into and after which more specific tests have been performed. This is usually done when the child is about six to twenty-four months of age. To treat Hurlers Syndrome, a person would have to have enzyme replacement surgery which helps the body make alpha-L-iduronidase or have a bone marrow transplant to prevent retardation and that only improves some of the symptoms and should be done at a very young age. Scientists state that it is better for a child with the disease to have this surgery at a young age because they will have a better chance of living longer. A person can also have a stem cell transplant surgery and if this surgery is successful many symptoms of the disease are stopped. Seventy-five percent of those whose transplants are from siblings or other close family members have a higher rate of survival than those whose donors are not as closely matched. Many children with a heart disease caused by Hurlers Syndrome cannot have these surgeries due to the fact that their heart is not strong enough to help recover after any surgery. Any other treatments that can treat Hurlers Syndrome depend on the organs which are a ll infected. â€Å"For those children whose diagnosis came too late in the progression of the disease to be eligible for transplant, there is still some hope in a newly approved enzyme replacement therapy.† Young children with Hurlers Syndrome usually end up with nervous system problems and will have the chance of dying at a young age. Experts say that couples with the history of Hurlers Syndrome in their family or any other disease should be tested before they think about having children of their own. Today there is no actual cure for Hurlers Syndrome, but the MPS society is working very hard to find a cure for it. â€Å"About 1 in 160 people are carriers, which result in about a 1 in 25,000 chance of two carriers meeting. Since this disease is so rare the chance of having a partner who is another carrier is very slight provided their partner is not a cousin or other close family member.† Since Hurlers Syndrome is a recessive gene there are only 1 in 4 chances that a child will suffer this disease if their parents are carriers. In this case 1 out of 100,000 children are affected with this rare disease. â€Å"The unaffected children have a 2 in 3 chance of being carriers like their parents, and a 1 in 3 chance of being a normal non-carrier.† The oldest survivor of Hurlers Syndrome is currently in his early twenties and is standing strong, however, most people affected with this disease do not live past the age of twelve.

Best Leader Essay

INTRODUCTION That I had chosen is Tun Dr. Mahathir bin Mohamad which is our Malaysian fourth Prime Minister of Malaysia. He is one of a good Malaysian politic leader. He held the post for 22 years from 1981 to 2003, making him Malaysia’s longest serving Prime Minister. His political career spanned almost 40 years. Born and raised in Alor Setar, Kedah, Mahathir excelled at school and became a medical doctor. He became active in the United Malays National Organisation (UMNO), Malaysia’s largest political party, before entering parliament in 1964. He served one term before losing his seat, before falling out with the then Prime Minister, Tunku Abdul Rahman and being expelled from UMNO. When Abdul Rahman resigned, Mahathir re-entered UMNO and parliament, and was promoted to the Cabinet. By 1976, he had risen to Deputy Prime Minister, and in 1981 was sworn in as Prime Minister after the resignation of his predecessor, Hussein Onn. ACHIEVEMENTS Tun Dr Mahathir Mohammad had achieved lot of achievement during being a Prime Minister of Malaysia. He brings many good programs, mission and vision to Malaysia such as â€Å"Wawasan 2020†, first Malaysia cars†Proton â€Å", good education system and many more. There were lots of changes happen in Malaysia during his Management. Although he was rise from an ordinary family, he becomes a successful person in his life. This is indeed the great achievement of Tun Dr Mahathir in his twenty-two years as the Prime Minister of Malaysia. In my opinion an award is given to Tun Dr Mahathir in recognition for his achievement in changing, the mental altitude of the Malaysians. We can say that Tun Dr Mahathir is able to change to a certain extent the negative mental attitude of the Malaysians to a positive mental attitude. Tun Dr Mahathir has come with the slogan that change the negative mental outlook of the Malaysians to become positive mental outlook and this has becomes the basi s towards making Malaysia an advance country by the year 2020. Tun Dr Mahathir has set the vision that Malaysia is to become an advance country by the year 2020. An advance country to Tun Dr Mahathir is not only advancing materially but also spiritually. He wants Malaysia to becomes advance in all fields and to become advance in their thinking and achievements. In order to achieve vision 2020 all Malaysians especially the Prime Ministers must cling to the vision, slogan set by Tun Dr Mahathir. Unfortunately the Prime Ministers Tun Abdullah Ahmad Badawi comes with the vision of Islam Hadari, and the Prime Minister Dato’ Seri Najib Tun Razak comes with the slogan of Satu Malaysia. In my opinion, we should stick to the vision, slogan set by Tun Dr Mahathir. All of us should work hard to achieve the vision that is to make Malaysia an advance country in the year 2020. During the times when Tun Dr Mahathir becomes the Prime Minister of Malaysia, there were so many infrastructure developments in Malaysia. We have the north and south highways built during his time, the twin towers, once the highest building in the world, the airport and many others built during his time as the Prime Minister of Malaysia. Malaysians are sent abroad to study and acquire knowledge and it is during his time that Malaysia start sending students to Japan and Korea. Tun Dr Mahathir is in the opinion that we do not sent student only to acquire knowledge but also to acquire good working attitudes. Since the Japanese and Koreans have better working attitudes than the Americans and Europeans, the decision made by Tun Dr Mahathir to send our students to these countries to learn good working attitudes are commendable. Tun Dr Mahathir knows very well that having only knowledge without good working attitudes will not make Malaysia an advance country. In order to become an advance country Tun Dr Mahathir want the Malaysians to acquire knowledge as well as to acquire good working attitude. CHANGES IN MALAYSIA CONCLUSION As a conclusion, Tun Dr Mahathir Mohammad is a great man and a very good leader which I saw in my life. A simple normal man changes the country to become a one of the top country in the world. He is a good and intelligent leader, bring along our Malaysia community to a become a successful community by his good management.

Is College Degree Essential

Alice Sewah 10/14/11 V1 A college degree is essential for my future Is college degree really worth all the money spent and the effort put in it? Right now in our socirty a college education is no longer a option or a privilege. Without a college degree, you might as well becomes a homeless because if you don’t have a college degree you really aren’t anybody in this society. With a college degree, you get a good job, people give you more respect and you broraden up your knowledge. To me a college degree is essential for my future in order to be successful. First reason, college degree is essential is that it will lead me to get a really good job in the future. Being a college student perhaps more respectable role than being a janitor, lunch lady or a cook in a restaurant. When people know you as a college graduate, they give you more respect than just any ordinary person. With a college degree you get nice well-paying careers where you don’t have to break your neck and working your body to death. Even my parents motivate me more to stay in college because I don’t want to grow up and do the job that they doing now. Second reason why college is important is you gain respectful from people. For example my older brother who is a college graduate from Northwestern university gets more respect from all my family members and outsiders too. They look at him as not any ordinary person, but as a person who has accomplished a major goal that not everybody who starts finish. I know I will hain the same respect from people once I get my college degree. A degree is not just any other paper. It’s a special dcosument that will lead me to the right places in the future. It’s not good to be labeled as a college dropout or high school dropout. I would rather be preferred to be labeled as a college graduate not drop out. Another reason why college is essential is not only leading you to a good job, but also it prepares you with academic knowledge about the around you. Most people are irerlate and don’t even know much about the world they live in due to the fact they didn’t finish high school or go to college. Most people excuse for not going to college is money. Yes that’s true but, there are so many resources out there to help you get into college if you’re willing to go. The way things are going now, the only way to make it through is by getting a college degree. Even with some simple jobs out there, you need some sort of degree in order to be hired. College degree is really essential for my future because I want to make a difference and help out my family in Ghana who didn’t have the same opportunity as me to go to college. Most teens out there take education for granted and don’t care much about it. In conclusion having a college degree is for your own benefit. It will lead you to many grate places in the career industry. Yes is a lot of money and work but it’s really worth it. I know that in four years from now I will be really happy that I went to college and didn’t play around with it. Nobody can ever take your education from you it’s your god given rights.

The Importance Of Technology - 716 Words

Technology have been a long topic in the 21st century. Since the era of technology have risen exceptionally high, uses of technology have become vital in everyday life. In terms of, checking emails, text messages, and status everyone has done one of those three. Technology has become so advanced that it had exceeded the technology that had put a man on the moon. There is less need to going to physical stores and instead order an item with one click of a button. Technology gave everyone all over the globe to be able to communicate with each other. Technology is going towards a more greater use, because everyday errands have become more simpler to complete, newly made connections between people. Everyday errands have become more simpler to†¦show more content†¦Instead of, talking to people who would never know the answer, it erases meaningless chatter of things that could be easily found out by researching online. Additionally, with the new knowledge found online, people could easily communicate with each other in real life once both parties know what they are talking about. Technology is vital in human living, so that society could advance into a greater way. Without technology, things would be the same like in the olden days. People could only talk to the people in a small town and know only them and no one else in the world. Technology gives more of an opportunity to meet people of different culture and perspective in life. Technology does not disconnect us from reality, instead it brings us closer to people who we would have never have thought of meeting in real life. People may say the people have been relying on technology too much. Although, there has been an abundance of people who used technology to their full advantage. For example the app Uber, instead of trying to find a taxi in a town/city that do not really have taxi drivers. Uber helps people find a anyone to drive someone in need in any car and many other app’s and appliances in technology help people do simple things in a shorter time frame. Showing that there are plenty of people who are using technology the right way. In conclusion, Technology hasShow MoreRelatedThe Importance of Technology1118 Words   |  5 PagesAccording to Vikram (7), technology refers the application of scientific knowledge and skills for practical purposes in diverse fields such as industries, education, and agriculture among other fields. Technology is therefore an organized knowledge for practical purposes in human day to day life. The fundamental purpose of every human life is to increase standards of living, improve the quality of his life and to always have a greater satisfaction in life (Vikram 8). These fundamental purposes canRead MoreTechnology Importance1088 Words   |  5 PagesThe Importance of Technology, which was always debatable, has now become more controversial. The substantial influence of Technology on our lives has sparked the recent controversy over the potential impact of this trend. It can be agreed that Technology has a profound impact on many communities, however some people claim that it had an adverse impact on many societies. This essay will elaborate both positive and negative aspects of technology on our lives and thus lead to a logical conclusion. Read MoreThe Importance Of Technology861 Words   |  4 PagesIn the last two decades, technology companies have saturated the market with the latest advancements to bring people the latest help with their day to day interactions, jobs, and education. With so many gadgets and trinkets, one can only wonder, just how much exposure to technology is too much? In this digital age, parents and schools are introducing tablets to children at a very young age. Eliana Dockterman, a journalist for Time Magazine, expresses the importance of allowing children to take advantageRead MoreThe Importance Of Technology1740 Words   |  7 PagesShmuel Dovid Baum Date: Jan. 4, 2018 Technology has had quite a significant impact on the way we live our lives and interact with the world. It is quite common to see people walking down the street and oblivious to the world around them while they are immersed in the world of their smartphones. By looking at where we are now with our days so connected to the Internet and the ubiquitous presence of smartphones andRead MoreThe Importance Of Technology And Technology1294 Words   |  6 PagesFrom the moment people wake up to the moment they go to sleep, they are surrounded by technology. Society has become dependent on technology and the recreation industry is no exception. First, recreation is any personal experience at any time that is personally chosen and self-fulfilling. It extends beyond the simple act to include a state of being and a way of life. Likewise, recreation therapy uses recreation activities to help individuals with physical and/or psychological limitations with theirRead MoreThe Importance Of Technology And Technology1043 Words   |  5 PagesTechnology has become a vital part of the insurance over the past decade in a plethora of ways, ranging from mobility to Big Data, and even social media. We are in a new era and insurance companies/agencies are being pushed to adapt, or face being pushed aside to those expanding with society. By utilizing the technology and new ways, they are maximizing customer outreach and satisfaction. The need for personal interaction is still a must, but slowly diminishing, yet there will always be a need especiallyRead MoreThe Importance Of Technology And Technology1172 Words   |  5 PagesAs technology keeps evolving, so should security measures to protect organizations and consumers from natural disasters as well as man made disasters. We live in an age where everything is accessible by a click of a button. Society is definitely getting more dependent on computer and technology for functioning in our every day life. In this age, everything is acces sible by a click of a button and can be done online. People can bank online; customers can look for their bank statements and even transferRead MoreTechnology : The Importance Of Technology And Technology1183 Words   |  5 Pagesmy homework. Every day the school comes up with new ways to improve the students’ learning. Since the school is modernizing, this means that technology is bound to occur in some form of shape. Technology will continue to advance and will eventually (if not already) become part of everyone’s daily life. For this reason, students must learn how to use technology now. Hence, all students should have access to a laptop whether it is their own or one provided by the school because laptops allow studentsRead MoreThe Importance Of Technology1806 Words   |  8 PagesAs time progresses, our conscious mind becomes muddled into the fast-paced society where we rely frequently on the usage of technology to solve our everyday life. Although, it is impor tant to acknowledge the development and capabilities of modernization, it is essential to be cognizant of one’s mind. Having an innate capability of free-will is a powerful tool for humans to utilize because it gives us the choice to think for ourselves rather than letting others or machines think for us. However, nowadaysRead MoreImportance Of Technology : Technology Integration1187 Words   |  5 PagesImportance of Technology Integration It is supposed that educator incorporation of technology into workrooms for high-level learning will lead to enlarged scholar learning. Technology of higher-level use will improve every feature of scholars’ learning skills across curricular areas, so children will grow intelligently rather than develop lonely technology skills. Among 1999 and 2003, the US Department of Education’s â€Å"Preparing Tomorrow’s Teachers to Custom Technology† (PT3) financed over $750 million