Niemann Pick Disease

I. Overview:

Niemann Pick Disease is a lipid storage disorder closely related to Alzheimer’s disease. It is a very serious condition that causes a variety of health issues, disabilities, and even death. Described below are the three types of Niemann Pick Disease: Type A, B, and C.

Type A: problems include liver enlargement and spleen enlargement from excessive cholesterol, a byproduct of the condition. Another symptom is the failure to gain weight and certain neurological problems.

Type B:

problems include retardation, lung failures, brain disorders, and blood disorders. These problems can start in newborns around 3 months old. People with type B can grow up to be adults.

Type C: problems include liver disease, trouble breathing, seizures, and n inability to move their eyes vertically. Type C consists of both Types A and B. Once the disease is diagnosed the average person has a 7 to 10 year life span.

II. Gene Related Acquisition of the Disease:

Patients likely to develop Niemann Pick Disease will have inherited it in an autosomal recessive pattern, Put simply, this means both copies of the gene in each cell have mutations. The parents of a kid with this condition each carry one copy of the mutated gene. The parents do not show any sign or symptoms of the Niemann-Pick Disease. Most often this deadly combination comes from parents who are closely related. The disorder, however, is not sex linked.

III. Diagnosis and Life Span:

Type A: often noticed when a person is a baby around 3 months of age. Many of these babies do not make it passed the age of three.

Type B: often noticed at around 6 months of age. Many of these infants can make it to be adults.

Type C: often noticed at birth or at an older age. When symptoms arise, the patient usually lives no more than 10 additional years.

IV. Early Diagnosis:

Fetus: Parents can check the fetus chromosomes for irregularities prior to birth.

Adult: Parents themselves can have a DNA test to see if they have any mutated chromosomes- this is especially important if they are closely related.

V. High Risk Candidates:

Types A and B occur in all races.

Type A disease occurs more frequently in people of Ashkenazi Jewish descent. Type B occurs higher in the Maghreb region of North Africa, Saudi Arabia and in People of Turkish descent that are all closely related. People such as these descendants should be tested so that we don’t keep having babies that can be carriers and the disease or simply refrain from having babies with close or distant relatives.

VI. Autosomal Recessive Inheritance Graph:
VI. Resources:

a) The Niemann-Pick Disease Foundation
b) http://www.youtube.com/watch?v=ME-LFneuDZk
c) Genetic Home Reference.com
e) National Niemann-Pick Disease Foundation Inc.com
f) Genetic Disorder Testing.com

Blog Post# 6

1. What was your favorite Geology topic this year? Why?
When we learned about volcanoes because I think it cool how lava can melt almost anything.

2. What was your favorite Meteorology topic this year? Why?
When we learned about clouds because now I know what kind of clouds are there when there is a storm.

3. What was your favorite Astronomy topic this year? Why? (Include a picture for #1, #2, OR #3)
When we learned about how the universe formed and about black/worm holes because I like to discuse about time travel and space.

4. What grade do you think you earned on the Final Exam? What did you do to prepare? Is there anything that you wish you had done differently?
I think I got at least a 80. I study my cross words and the online quizzes on quizstar. No

Blog Post#5

Blog Post# 4

1. What made the Big Bang "bang?" In other words, why didn't the universe just stay in a tiny little sphere the size of a golfball? More details = more points.
Because they just started to blow up and take up more space. But I am going with the Dunn theory which says we will all get sucked up into a black hole and the black hole will fill up and explode again and so on.

2. What do you think would happen if you went into a black hole? Scientists only know what happens until you get to the event horizon. Anything beyond that is really just an educated guess. More details = more points.
I think that we wouldn't survive. I think we would get crushed up into pieces but the black hole would be filled up eventually. I think the black hole would be like a blender.

3. Tell me what you think about worm holes? When you pass through one, where do you go? WHEN do you go? More details = more points.
I think that they can be real but they have a limit like i think they wouldn't be able to take you back in time but into the future. But if it doesn't take you into any point in time i think it could take you into a different dimension, but if i could go through a worm hole i would want to go into the future to see what would happen to the world later.

Blog Post# 2

1. What is the primary gas in the Jovian atmospheres?
The main gas in the Jovian planets is Hydrogen

2. What is the primary gas in Mars and Venus?
Mars primary gas is carbon dioxide and for Venus is nitrogen

3. If you had to visit one planet, which would it be? Why? Give me a solid paragraph. (consider many factors such as location, temperature, atmosphere composition, and anything else you you feel is important).
I would want to visit Mars because its still close to home so I could make it back faster to earth

Blog Post# 1

1) Black holes- Black holes are places where ordinary gravity has become so extreme that it overwhelms all other forces in the Universe. Once inside, nothing can escape a black hole's gravity — not even light.

2) Worm holes- Wormholes arise as solutions to the equations of Einstein's general theory of relativity. Its just like time travel

3) Milky Way Galaxy- The Milky Way has been described as a serpent or a river, and in Sweden they call our galaxy Vinter Gatan

4) Kuiper Belt- It is located beyoned neptune. It was named after astronomer Gerard Kuiper.


5) Pluto- Pluto orbits beyond the orbit of Neptune (usually). It is much smaller than any of the official planets and now classified as a "dwarf planet". Pluto is smaller than seven of the solar system's moons

Blog post# 6

1. Which blog was your best this quarter? Why?Blog post# 5 because I really enjoyed doing it and it looks really cool.

2. What topic did you enjoy learning about the most (from chapter 17-20)? Why? Include a picture.Wind speed because I liked doing the lab about making a anemometer to measure wind speeds and our recession field trip outside.

3. What grade do you deserve for your 3rd Quarter Blogs? (Keep in mind some basic math. If you only did 3 out of 6 of them you cannot earn above a 50%.)I think i deserve a 93 because I have been making 85-91 and been consistent with it so that I can make a A in this class.