Marfan Syndrome Disorder Report

The Marfan syndrome is a heritable disorder of the connective tissue that affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. All these seemingly unrelated characteristics are caused by a mutation in a single gene on Chromosome 15. This gene is named FBN1 for the protein it encodes, fibrillin-1. The precise order of A’s, C’s, G’s, and T’s in the gene determines the composition of the protein. The cell’s protein-production machinery reads the code in the gene and then adds the proper amino acid to the growing protein. Each amino acid is embodied by a different three-letter code. The gene produces many copies of the fibrillin protein and these join together to form a long stringy structure called a microfibril. But when one of these three letter codes get mixed up, then the machinery produces the wrong kind of amino acid and the microfibril gets deformed into a Marfan-infected one. Usually, this gene is inherited from a parent who is also affected. Approximately one-quarter of the cases occur because of a spontaneous mutation.

The Marfan syndrome is autosomal dominant, indicating that someone with the condition has a 50-50 chance that any offspring will inherit it.

The most serious problems that Marfan syndrome can cause involve the cardiovascular system. The two flaps in the mitral valve may turn backwards when the heart contracts. This can lead to leakage of the mitral valve or irregular heart rhythm.

In addition, the aorta, the main artery carrying blood away from the heart, is generally wider and more fragile in patients with the Marfan syndrome. This widening is progressive and can cause leakage of the aortic valve or tears in the aorta wall. When the aorta becomes very wide, or tears, surgical repair is necessary.

Skeletal signs common in people with the Marfan syndrome include scoliosis, abnormally shaped chest, loose joints and disproportionate growth usually, but not always, resulting in tall stature.

People with the Marfan syndrome are often near-sighted. In addition, about 50 percent have dislocation of the ocular lens.

The Marfan syndrome is difficult to diagnose because there is no specific laboratory test for the condition. In addition, characteristics of the disorder vary greatly among affected individuals. Most affected people do not have all of the possible signs and complications of the syndrome.

An accurate diagnosis of the Marfan syndrome can be assessed after a complete physical examination that focuses on the systems affected by the disorder. This will include an echocardiogram, a sound wave picture of the heart by a cardiologist, a slit-lamp eye examination by an ophthalmologist, a skeletal examination by an orthopedist, and a complete family history.

The identification in 1991 of the chromosome, gene and component of connective tissue (fibrillin) in which the mutation for the Marfan syndrome is located offers great promise for the diagnosis of the condition. It is hoped that as a better understanding of fibrillin is gained, earlier and more accurate diagnosis of the Marfan syndrome will be possible. People affected by the Marfan syndrome should be treated by a physician familiar with the condition and how it affects all body systems. There is no cure for the disorder yet, but careful medical management can greatly improve the prognosis and lengthen the life span.

Every affected person should work closely with his/her physician(s) for their customized treatment plan. However, in general, treatment includes the following:

Annual echocardiogram to monitor the size and function of the heart and aorta.

Initial eye examination with a slit-lamp to detect lens dislocation, with periodic follow-up with an ophthalmologist.

Careful monitoring of the skeletal system, especially during childhood and adolescence.

Beta-blocker medications may be prescribed to lower blood pressure and, consequently, reduce stress on the aorta.

This is usually surprising to most people, but the health of your heart depends on the health of your teeth, much more than you would think. That is why they need to take antibiotics by injection before they go to the dentist and in other situations in which bacteria could enter the blood stream.

People with Marfan syndrome should adapt to doing many different sports and outdoor activities to reduce the risk of injury to the aorta.

The Marfan syndrome is, again, a one-gene disorder on chromosome 15, causes injury to heart, skeleton, and eyes alike, does not have a cure yet may be diagnosed and treated, and a person has a 50/50 chance of getting it if one of his/her parents have it. This, as all other inherited sicknesses, is not contagious, so one should not be afraid of people that have it, but rather help them, if they need it.

Bibliography

“Marfan Syndrome” http://www.yourgenesyourhealth.org/ygyh/mason/ygyh.html?syndrome=marfan§ion=cause&video=0 - 2002.

“National Marfan Foundation: Fact Sheet” http://www.marfan.org/pub/factsheet.html -November 2002

Phillip Friedman “The New Book Of Knowledge: M” Danbury, Connecticut: Grolier 2000.

Mrs. Gray's Science and the Digestive Tape

This year in Mrs. Gray’s science class, I had the most fun. However, I did not have fun only because science is my favourite subject, but also, because Mrs. Gray’s science class is well-organized and includes the most awesome materials and projects. It has always been my dream, until I came to Egan, to be able to fiddle with flasks, test-tubes, and chemicals alike. Now, at Egan, it has all happened. My dream has come true!

Science has also taught me a few useful skills in some of its projects. First, while we were doing the digestive tape project, we had to use teamwork to be able to finish it in time. The procedure went as follows: while Danny held one end of the tape and Andy held the other, I walked along it with a meter stick and counted off how long it was. After that was finished, we used teamwork to colour in the tape. As Andy held the tape, and restrained it from rolling up, I drew the intestine. Danny coloured it pink behind me, and I added brown after him. Finally, to roll it up, I had to put one end of the tape on the table (to make it go on the roll straight) and roll it up at one side of the room, Andy had to stand on the other side of the room with a pencil that acted like a pulley, and Danny held the other end of the tape on my side, getting closer to Andy as I got farther and farther into the seemingly interminable process. Generally, this digestive tape project required an enormous amount of teamwork, and without it, my group and I would have probably not finished it in time.

This quarter, in science class at Egan, I gained a lot of knowledge about skills like teamwork, research and many, many others that I wouldn’t be able to fit on the remainder of this page. I greatly thank Mrs. Gray for her never-ending perseverance and love toward her students and work. Without Mrs. Gray, science would have been a failure.

Science Careers research Assignment

What does this scientist do on their job? A veterinarian treats hospitalized animals, and reports them back to their owners. Depending on the large animal case load for the day - usually 2 or 3 vets will work in the small animal hospital which will involve consults and surgery during the morning and then consults in the afternoon. 1 to 2 people will be doing outside calls for most of the day. The outside calls can be anything from routine herd health work, pregnancy testing and service capacity testing of bulls to emergency work such as large animal births. Most veterinarians perform clinical work in private practices, more than one-half predominately or exclusively treating small animals. Small animal practitioners usually care for companion animals, such as dogs and cats, but also treat birds, reptiles, rabbits and other pets. Some veterinarians work in mixed animal practices where they also see pigs, goats, sheep and some non-domestic animals. Veterinarians in clinical practice diagnose animal health problems; vaccinate against diseases; medicate ill animals; treat and dress wounds; set fractures; perform surgery; and advise owners about animal feeding, behavior and breeding. They euthanize animals when necessary.

What are the educational requirements for this job? A student who is interested in becoming a veterinarian should select courses in science as early as the high school level, and discuss details for a suitable academic program with a well-informed guidance counselor. Anyone considering a career in veterinary medicine should contact the appropriate veterinary college for specific course requirements. Science courses such as biology, chemistry and physics form a foundation upon which further education will rest, but optional courses in the humanities and social sciences are also recommended as well as a strong background in mathematics. If working in a clinic interests you, consider taking courses in business administration, management or entrepreneurship. A student should also plan to gain practical experience by working with several animal species. Voluntary experience and employment with a veterinarian is very helpful in gaining insight into the profession. To obtain the degree Doctor of Veterinary Medicine (DVM), a minimum of six years of university education is required: two years of pre-veterinary study at a regular university followed by four years of courses in veterinary medicine. To obtain the degree Doctor of Veterinary Medicine (DVM), a minimum of six years of university education is required: two years of pre-veterinary study at a regular university followed by four years of courses in veterinary medicine.

How could a person who has the type of career you have chosen affect your life personality? If I were to have a very reliable pet, or a pet that I would love and care for, and if that pet were seriously injured or ill, that veterinarian would have probably saved that pet from permanent physical disorder, or death.

Science Paper Towel Absorbency Experiment Report

Question: Which of the four paper towels: Job Squad, Bounty, Kirkland, or Brawny’s is most absorbent?

Purpose: To find out which paper towel will be most useful, when a major “spill disaster” occurs.

Hypothesis: I think that the winner of this contest will be Job Squad, because it is very thick, tough, and has a lot of space and fiber threads to absorb the water.

Procedures: The materials you will need to test this hypothesis the way table 1 did it, are: a plastic container about 10x15 inches in size, each of the four paper towels, a measuring cup/beaker, and 100ml of water. An eyedropper is optional.

Pour 100ml of water into the plastic container; make sure the amount is exact. Cut the four paper towels to the same width and length (usually Job Squad is the smallest). Take one of the paper towels, and absorb as much water from the container as physically possible, then squeeze it out as hard as you can. Pour what is left in the container into the measuring cup. Record the results. Repeat with the other three paper towels; remember to refill the amount of water until it is up to 100ml.

Observation/Data:

Brawny’s…………………………9/100ml absorbed

Job Squad……………………… 17/100ml absorbed

Kirkland…………………………10/100ml absorbed

Bounty………………………… 5/100ml absorbed

Conclusion and Analysis:

After much analysis, we come to a conclusion: the one paper towel that is most absorbent is in fact Job Squad. It absorbed 5ml more than Kirkland, 6ml more than Brawny’s, and three times as much as Bounty. But the size of the paper towel is smallest, so the others might absorb more in real life, since we do not like to cut our paper towels to Job Squad’s size when we use them.

New Questions:

The primary question was solved, but when the conclusion was made, there were other unsolved questions that popped up at us, like “If Job Squad absorbs the most, is it also most expensive?” or “will there be a big difference if we didn’t squeeze the water out?” and many more.