Recent update
- Lemierre’s syndrome
- Rare Diseases
- Pulmonary Hypertension
- Fibrodysplasia Ossificans Progressiva
- Hirschsprung disease
- Malignant infantile Osteopetrosis
- Systemic Capillary leak Syndrome
- Segawa’s Dystonia
- Hunters and Hurlers Syndrome
- Epidermolysis Bullosa
Progeria
February 11, 2010 by ru30
Progeria is a very rare and serious disease. Progeria was first discovered in 1886 by a doctor named Jonathan Huchinson. The real name of Progeria is Hutchinson-Gilford Progeria syndrome, but most people just call it Progeria.
The Symptoms of Progeria are Limited growth, no hair, fragile bodies, like those of elderly people, and wrinkled skin.
Progeria is very serious because the body ages really fast inside. The average age for people to die with Progeria is about 13. The oldest person to live with Progeria lived to be 32.
There is no known treatment that has been proven effective but low dose aspirin therapy and a high calorie diet can help. Also scientists are trying to make a growth hormone therapy.
Posted in Uncategorized | | | 7 Comments
CIPA
February 11, 2010 by ru30
CIPA or Congenital Insensitivity to Pain with Anhidrosis is a rare disease that affects the nervous system. The odds of someone being diagnosed with this disease is 1 in 125 million.
The Symptoms of this disease are that you don’t sweat and you can’t feel pain. Even though you might think that it would be cool not to feel pain, it is actually very dangerous because you could get hurt and not even know it.
The cause of this disease is that the nerves don’t fully develop so you can’t feel pain and you don’t sweat because you body doesn’t know that your hot.
The treatment for CIPA doesn’t always work but sometimes a chemical called Naloxone works.
Here’s a link for more information on CIPA
http://en.wikipedia.org/wiki/Congenital_insensitivity_to_pain_with_anhidrosis
Posted in Uncategorized | | | 3 Comments
Angelman syndrome
February 10, 2010 by ru30
Angelman Syndrome is a rare neurological genetic disorder. It got it’s name from the doctor who discovered it, His name was Dr. Harry Angelman, he discovered it in 1965. Also he diagnosed the first three patients.
The most common symptoms of this disease are:
- Developmental delays
- Speech impairment sometimes no speech at all
- Movement or balance disorder
- Lots of laughter and smiling
- a small head size
- and in some cases seizures The cause of Angelman syndrome is that the people don’t have enough of the chromosome 15. There is no cure for Angelman syndrome, but they can treat most of the symptoms with medication. Most patients with Angelman syndrome can live a normal life span and as they grow there symptoms get better.
A link to Penn State Children’s Hospital.
http://www.hmc.psu.edu/childrens/healthinfo/a/angelman.htm
Posted in Uncategorized | | | 6 Comments
Midterm Reflection
January 28, 2010 by ru30
1. What’s been going well in this half trimester is writing I think I have been doing better in writing I think it’s going well because I’ve been Trying harder. I think I’ve been trying harder because the assignments are more fun and I like them better.
2. I think this half trimester I haven’t been doing that well in is study skills because I’m not very organized and most of the things we do in study skills involve being organized.
3. I think that Mr.H has done a good job with fun this half trimester is doing things on the computer other teacher barely ever let us use the computar but Mr.Herzog does.
4. Mr. Herzog needs to work on not being so loud sometimes he is just a little to loud.
5. I think Mrs. Winokur has explained things better this trimester. Before it was sometimes hard to get what she was explaining. I think she has explained speed really well.
6. I think Ms. Winokur could do better by giving us more hands on experiments in class.
7. Study Skills has helped me with my time management, Now instead of leaving most of my homework on Thursday I’ve been doing a little each night.
8. I think that we should learn how stay organized so we can find things easier and not loose things.
Posted in Uncategorized | | | 3 Comments
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