Tag Archives: Medicine

Understanding Absence Epilepsy

Did you know that epilepsy is the fourth
most common neurological problem of our society?

Epileptic seizures are the result of abnormal activity in the brain. Source: Youtube

Epileptic seizures are the result of abnormal activity in the brain. Absence epilepsy is one form of epileptic seizures, characterized by a momentary loss of awareness, usually lasting less than ten seconds. What differs an epileptic seizure from a non-epileptic seizure is that it is recurrent and non-epileptic seizures may be induced by psychological issues or stress-related factors.

Absence epilepsy is often associaed with children who have trouble in school, social problems, or who misbehave often. Source: Flickr

Absence epilepsy is often associated with children who have trouble in school, social problems, or who misbehave often. Source: Flickr

This condition is more common among children than in adults. As a result, absence seizures are often mistaken as daydreaming or periods of blanking out. Symptoms of absence seizures include fluttering eyelids, smacking of the lips, or rubbing fingers together. Absence epilepsy is often associated with children who have trouble in school, social problems, or who misbehave often. Most children will outgrow their seizures by age 18, however in some cases they can continue throughout the rest of their lives.

To understand a bit more about absence epilepsy, the podcast below depicts a scenario of a child experiencing absence seizures and how current research will fuel further medical studies to help with this disorder.
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There are current studies being conducted on the causes of this condition at the University of British Columbia, and we interviewed Dr. Stuart Cain at the Djavad Mowafaghian Centre for Brain Health about his research on absence epilepsy.

The main focus of Dr. Cain’s research is on calcium channels in the brain, and the role they play in absence epilepsy. It is found that the overactivity of certain calcium channels located specifically in the cells of the brain leads to a phenomenon known as “burst-firing”, and this is thought to be what triggers absence seizures.

The causes of absence epilepsy are still unknown, although there are many theories as to what causes an absence seizure. Dr. Cain believes that when overactive brain cells in one specific region communicates with two other regions of the brain and causes them to be stuck in a synchronous loop; this is what causes absence epilepsy.

The video below explains further on how absence seizures occur, and what the main findings of Dr. Cain’s research were:
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There are currently two types of drugs available to treat absence epilepsy, and although they work for most people in stopping absence seizures from occurring, they have not been shown to be 100% effective.

Dr. Cain and his team of researchers’ study serve as foundation for further development of anti-seizure medications to control absence seizures. He believes that in order to find a drug that will be completely effective in controlling absence seizures, the drug will need to target the calcium channels in the brain which cause burst-firing. Dr. Cain suggests that the next move is to push pharmaceutical industries to create a drug capable of doing just that. If this proves to be successful, perhaps then children will not have to worry about absence epilepsy affecting their lives.

Posted on April 4, 2016
By Emma Peachey, Jenny Ung, Karanvir Gill, Harsh Bhatt

Experimental Dengue Virus Vaccine found to be 100 Percent Effective

As many of us know, the dengue virus has affected billions of people since the early 19th century. The dengue virus is transmitted by mosquitos and is known to cause dengue fever. It is similar to other well-known viruses, such as the West Nile Virus, or the recent Zika Virus. Scientists were having difficulties creating a vaccine for the virus, as it appeared in four different serotypes (different strains). Creating a vaccine for a single strain could cause complications if the individual became infected with a different strain, as they would be unprotected. Also, if the vaccinated patient became infected with a different strain, they could go into dengue hemorrhagic shock, and die. Dengue hemorrhagic shock is characterized by bleeding, and severe low blood pressure. In most places where the disease is prevalent, all four strains of the virus cycle, thus it is important to create a vaccine that protected against all types of the virus.

The Aedes mosquito, responsible for transmitting viruses such as dengue. Via Wikimedia Commons.

The Aedes mosquito, responsible for transmitting viruses such as dengue. Via Wikimedia Commons.

The vaccine was tested in a small, double-blind trial with 41 volunteers. A double-blind trial is when neither the administrators of the vaccine nor the recipients know what they are receiving. Twenty of the recipients received a placebo (a fake shot, without the vaccine), and the remaining individuals were given the experimental vaccine. All participants in the trial were infected with a mild form of the virus six months later. The twenty individuals that were given a placebo showed symptoms of the virus, such as a rash, a low white-blood-cell count (cells of the immune system, that fight off viruses and infections), and other symptoms of the disease. The individuals given the experimental vaccine did not become sick, showed no symptoms of the virus, and did not have evidence of infection in their blood. The vaccine was developed by the National Institutes of Health (NIH), and the results were posted in Science Translational Medicine. Beth Kirkpatrick, a participant in the trial and a professor of medicine at the University of Vermont, called the experimental vaccine “100 percent efficacious” in an interview.

Stained monocytes, a type of white blood cell. Via Wikimedia Commons.

Stained monocytes, a type of white blood cell. Via Wikimedia Commons.

The results were so promising that the NIH rushed the study to large-scale Phase 3 testing in Brazil, a country where the virus is prevalent. Phase 3 is the last phase of clinical trials, where the drug or vaccine is given to large groups of people to confirm its effectiveness and monitor side effects. They plan on enrolling 17,000 adults, children, and babies and finishing Phase 3 by 2018. These results also have important implications on a vaccine for the Zika virus. As Zika and dengue are similar viruses, scientists believe what they have learned from the dengue virus can be used to cut back the timeline for developing a Zika virus vaccine.

Kush Khanna

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There is Hope: Body Fat Transplant May Be Effective in Treating Rare Metabolic Diseases?

People who have rare metabolic diseases, such as Maple syrup urine disease depend highly on donor transplantation. But is there an alternative treatment if donors are low? Not to mention the high expenses of a transplant?

But… you might be wondering… what exactly is maple syrup urine disease and where does it get its name?

Maple syrup urine disease (MSUD) is a rare disease because it follows an autosomal recessive mode of inheritance, one of the ways a disease can be passed down through families. This means patients inherit MSUD if both their parents have an abnormal gene.  MSUD  causes a defect in the way our body breaks down the three essential amino acids: leucine, isoleucine, and valine.

Maple syrup urine disease (MSUD) follows a autosomal recessive mode of inheritance. Source: Wikipedia Commons

Maple syrup urine disease (MSUD) follows a autosomal recessive mode of inheritance. Source: Wikipedia Commons

It is characterized by the distinctive maple-syrup scent found early on in urine samples of infants. They are important because essential amino acids cannot be made from the body, so they must come directly from our diet. The defect causes these three amino acids and their by-products to build up in the body. As a result, MSUD patients need precisely monitored diets (measured to the very milligram!) to avoid consumption of these amino acids, while still obtaining the other essential amino acids the body needs.

If MSUD conditions are left untreated, they can lead to coma, seizures and even death before reaching three months in age.

Liver transplantation is shown to be effective in treating MSUD because the liver is composed of an abundance of enzymes which appear to normalize amino acid levels, sometimes even allowing patients to fully adopt their normal diets again.

So organ transplantation is usually the solution to metabolic diseases but because of the high demand, is there a more accessible alternative?

Noting the high activity of fat tissue relative to muscle tissue in the body, researchers from Penn State College of Medicine tested the effect of body fat transplantation with genetically engineered mice with MSUD. They transplanted two grams of fat into the mices’ back or abdomen and found that when they implanted fat into the mices’ back, the amino acid levels dropped greatly in the transplanted MSUD mice compared to non-transplanted MSUD mice.

Transplanting fat into the abdomen of the mice did more harm than good and caused inflammation in the process. The results of this study were recently published in the journal Molecular Genetics and Metabolism.

Their study concluded that the amount of fat injected had no effect on the results. So this must mean that there will be further experimentation with fat transplantation. Fat transplant can be an alternative to liver transplant because it may be a more efficient approach as it is relatively inexpensive and it may be easier to find donors.

Wayne and Chad’s personal account on their child living with MSUD: YouTube Preview Image
Posted on January 25, 2016 By Jenny U