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Autism Understanding Furthered By International Genetic Study PDF Print E-mail
Written by Rachel Evans   
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Autism understanding begins when a person realizes that autism is a disorder that affects people differently. Although autism affects the normal functioning of a person's perception, attention and thoughts, autism is not characterized by one type of perception, attention and thought. Instead, it covers a broad spectrum of disorders that may be mild or severe. Due to the fact that autism is such a complex disorder, medical research is still in the process of understanding how it develops and why it affects certain individuals.

One particular medical project with the aim to find better autism understanding by identifying the gene that causes autism, is the 5 year Autism Genome Project (AGP). So far, phase I of the AGP has identified a gene and parts of a chromosome to be linked with the occurrence of autism. The findings of this particular autism study was published online in the Nature Genetics February 18, 2007 issue.

The Autism Genome Project is a global research consortium that is funded by Autism Speaks and the National Institute of Health. Autism Speaks is a non-profit organization that is dedicated to raising the awareness of autism and raising funds to help research it.

The AGP involves more than 120 scientists from 50 institutions in 19 countries around the world. The researchers who have collaborated on the project combined their autism expertise, and shared all of the data and samples they had to help identify autism-related genes.

As was mentioned, phase I of this project began 5 years ago in 2002, and it allowed the team of medical experts to gain autism understanding by identifying a single specific gene known as neurexil 1, and part of chromosome 11 which could likely be the cause of autism in children. These findings are based on the largest autism genome scan that has ever been done.

Scientists have known for many years that autism is a genetic disorder, but only until the AGP have they been able to use special "gene chip" technology to search for genetic similarities in autistics. Genetic similarities were found in practically all of the autistic individuals within each of the twelve hundred families that that were made part of the project. The scientists also checked the DNA of each family to look for copy number variations that are believed might be connected to autism and similar disorders.

What the researches discovered in their study was that one particular gene known as neurexin 1 plays a significant role with glutamate; a neurotransmitter that has been formerly linked to autism. Researchers also uncovered an area of chromosome 11 that is suspected to contain a gene that may be involved in the occurrence of autism. However, this particular gene in chromosome 11 has yet to be identified which is required for further autism understanding.

Based on previous research, and the research that has been uncovered by the study so far, scientists speculate that there may be as many as 6 main genes and 30 additional genes linked to autism. However, these numbers are only theories, as scientists point out that the actual number of genes could exceed their theory. Nevertheless, despite the number of genes that may be involved, researchers admit that it is still far too early to dictate how these genes may be responsible for autism.

Currently, phase II of the Autism Genome Project has been announced. The promising discoveries found in phase I makes scientists hopeful that discovering the genes that cause autism will provide new steps toward autism understanding. With greater understanding, more effective methods of diagnosis, preventing and treating the disorder can be taken.

 
Blindness - What to Know to Guide You on What to Do PDF Print E-mail
Written by Roger Guzman   
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Blindness cases have gone up in Minnesota. As diabetes risk goes up so does this complication. The Department of Health in Minnesota released the statistics that the main cause of blindness is diabetes. Around 500 to 800 become blind each year due to the complications of this condition.

The most common eye disease that is related to diabetes is retinopathy but this should not be the case. Why? Because MOA or the Minnesota Optometric Association says that early treatment of this condition decreases the severe vision loss by 50-60%. This is the best time to raise the awareness of this condition as there have been anecdotal records on how people deal with this problem.

For example, a 57-year old lawyer in Toronto barely has any vision and relies on specialized equipment to help him in his work and dealings with his family. His assistant used to print out the documents in extra large print but now the lawyer has other technology that helps him.

One thing he uses is a desktop closed circuit television which has a video camera and a computer monitor. He puts the document on the tray below the camera. The magnified image is beamed up to a screen. The words are one inch high.

This lawyer is lucky in a way because he was referred to a low-vision rehabilitation clinic where he was able to get advanced visual aids that lessened the burden of his disability. LVR helps patients through the use of personalized devices and training so they can use whatever remaining vision they have as best as they can.

Low visual rehabilitation is for people who are no longer helped by standard therapies like strong reading classes. By this time also, they are told by their eye care specialists that they can no longer help. LVR will not bring back the lost vision but it means that people could keep their job longer and maintain their independence.

As in the case of the lawyer, he was prescribed two devices after a detailed assessment. He was able to use a two-inch long telescope that attaches to his glasses and a pair of prismatic lenses. The lawyer wears the telescope in a string around his neck. He uses this when he needs to see anything afar.

The president of the MOA Board of Trustees, Dr. Tina McCarty, who is also an optometrist at Eye Care Center said that diabetes can be managed properly via an integrated health program. This should advocate a yearly complete eye exam. People should know that diabetes can cause vision loss and will need regular exams.

About 60% of type 1 diabetics will have signs of retinopathy after ten years. After fifteen years, nearly all type 1 diabetics will have retinopathy. The trouble is that patient may not notice the signs. This is a problem because early discovery and treatment is important to prevent blindness.

Changes in the retina's blood vessels may lead to diabetic neuropathy. In this case, the blood vessels may swell and fluid will leak. In other cases abnormal blood vessels may grow right on the retina's surface. Blindness could be the result of these changes. What can we do to avoid this?

Get an eye exam every year so it will be caught early. Once the diabetic retinopathy is here, take the medication as the doctor ordered. Keep eating a healthy diet and stay on a regular exercise program. Also control the high blood pressure and high blood sugar. And last but not least, avoid smoking and drinking alcohol.

Here are the signs of retinopathy. See the eye doctor if you have any of these symptoms:

  • Blurry vision
  • Both or one eye hurts
  • Feeling pressure in the eye
  • Seeing double, spots or floaters
  • Having trouble reading
  • Can't see things at the sides as well as before

There you have a background information on retinopathy. You have the knowledge on what to do in order to avoid this dreadful complication. There are also advanced visual aids that could help you keep your job longer and maintain your independence. It is not the end of the word when faced with the possibility of blindness.

 
Blindness Could Be Caused By Diabetes! PDF Print E-mail
Written by Ng Peng Hock   
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Diabetes is a metabolic disorder that reduces a person’s immunity. It can lead to heart disease, and it may also affect some organs of the body, such as the eyes. Diabetes is, in fact, the cause of the most common form of blindness, a condition known as diabetic retinopathy.

Almost all patients with Type 1 diabetes and 60 percent of patients with Type 2 diabetes who have had the disease for 15 years or longer, suffer from some degree of diabetic retinopathy.

Besides getting the risk of going blind, diabetics also have greater chances of getting cataracts at an earlier age, and glaucoma, a condition where a build-up of high pressure in the eyes causes the optic nerves to become damaged.

Diabetes damages the blood vessels in the body causing various eye problems. Normally, our retinal vessels do not leak. But uncontrolled condition of diabetes might cause a leakage of the blood vessels and also a swelling of the retina. Blockage of the vessels might also occur, resulting in a shortage of oxygen to the eyes and the growth of new, abnormal vessels, which may cause bleeding, scarring, and even retinal detachment.

One of the common treatments for diabetic retinopathy is laser photocoagulation that uses light to burn the retina. This helps reduce the swelling and leakage and improves vision. In cases where the blood vessels in the eyes shut down, doctors will use laser surgery on larger areas of the eyes to reduce the lack of oxygen within the retinal tissues. This also cuts off the stimulus for the development of new, abnormal vessels. But in the more advanced stages of the condition, surgery might be required to remove the blood and scar tissues.

Laser and surgical treatments serve to stabilize a patient’s condition but do not cure it totally. Patients typically regain about 50 percent of their sight; hence it is important that regular and annual eye screenings are necessary for early detection.

Diabetes can be asymptomatic, which means that some people can go for years without realizing that they have the disease if symptoms (excessive thirst, frequent trips to the toilet, skin or urine infections) do not surface.

They tend to discover their condition only after their vision has become blurred and diabetic retinopathy has already set in. About 21 percent of patients are found to have retinopathy at the point of their diabetes diagnosis. Those with a family history of the condition are urged to go for regular health checks as they are at a higher risk of getting the disease.

The key in preventing the onset of diabetes-related eye problems is to maintain healthy blood glucose levels with regular medication and a strict diet. Diabetics should try utmost to cut sugar from their diet. Limit fruit to one portion per meal and avoid white flavor and carbohydrates like white rice and bread, and opt for unpolished rice and multi-grain bread instead.

 


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