Tyler Staab was a healthy, active 7-year-old in 2005, when his arm started shaking while shooting baskets. His symptoms increased while his family struggled to find a diagnosis.
Eventually, genetic testing confirmed a diagnosis for Tyler: a complex neurological disease known as dystonia.
Dystonia causes involuntary muscle spasms that twist the body. Genetic forms of the disease generally begin in childhood and worsen throughout adolescence.
Tyler’s dystonia is caused by an inherited DNA mutation, and is known as DYT1 dystonia. Tyler has grown into an incredible young man, but at 16, involuntary dystonic movements make it challenging for him to walk, eat or even to speak. His sister, Samantha, has been diagnosed with the disease as well. Their younger brother is at risk.
Genetic test results are either positive, negative, or less commonly, VUS. This stands for genetic variant of unknown significance.
Most results of genetic testing for inherited susceptibility for cancer are either negative (meaning no gene mutation or change was found) or positive (meaning a gene mutation that causes an increased risk for cancer was found). However, a small portion of tests result in an inconcolusive genetic test result, or what is termed a variant of unknown or uncertain significance, or VUS.
A VUS is a change in the normal sequence of a gene, where the significance of the change is unclear until further study of a sufficiently large population. Complete gene sequencing often identifies many variants for a given gene. Continue reading →
Many of us grew up with nutrition habits we thought were healthy. But, according to today’s standards, some of those habits should be laid to rest …
1. I eat vegetables every day at dinner, so I’m healthy.
Not so fast! Eating one serving of vegetables a day will no longer cut it, especially if they’re starchy vegetables like corn, peas, potatoes, sweet potatoes or winter squash. Although still good for you, a serving of these actually counts in place of bread, pasta or rice. For optimum cardiovascular health, aim to eat half a plate of non-starchy vegetables — asparagus, broccoli, carrots, cauliflower, green beans, lettuces, onions, peppers, tomatoes and zucchini — at lunch and dinner. Aim for at least five or six cups of raw leafy greens or three cups cooked or raw vegetables every day, and remember: There’s no maximum on these non-starchy vegetables. They pump you full of fiber and phytonutrients and are low in calories.
When taking a blood thinner such as warfarin, it’s important to maintain a healthy intake of vegetables — no more “I’m on a blood thinner so I can’t eat veggies.” Instead, be consistent with Vitamin K content from day to day and you’ll have no problems and be healthier.Continue reading →
Studies in mice indicate that our brains may go through a process while we sleep that rids them of toxins that build up during the day
Did you ever wonder what happens to our brains at night? If recent studies in mice are any indication, our brains may go through a process that rids them of toxins that build up during the day.
The studies suggest that during sleep, there is an expansion of extracellular space within the brain that corresponds with increased fluid movement around and into the deep parts of the brain. This fluid movement is associated with a more robust exchange of small compounds into and out of the brain itself.
In mice studies, some of these compounds include toxic proteins—namely amyloid beta protein, which is implicated in the development of Alzheimer’s disease and other dementias. How external fluid moves into, within and out of the brain tissue still remains a mystery. Continue reading →
On the Friday our son Dominic turned 9 weeks old, he started throwing up immediately after eating. This continued on and off through out the weekend, so we took him to the pediatrician first-thing Monday. During that appointment, the doctor noticed that his head circumference seemed to be not following the normal growth curve. He sent us to a nearby hospital right away.
There they did an ultrasound and MRI, which revealed that Dominic had a brain tumor. On July 23, 2014, he underwent a seven hour tumor resection. The tumor was quite large, about 40 percent of his brain space. One week later, we learned the tumor was a rare, cancerous tumor, called a Choroid Plexus Carcinoma. We knew the road ahead of us would be a long one. Unfortunately, we just didn’t feel like the hospital we were at was a good fit for us, so we transferred Dominic’s care to C.S. Mott Children’s Hospital.
When Anna Dai and Efrain Segarra signed up to take an entry-level computer engineering course at University of Michigan, they expected to learn about game software development.
What they did not expect was to find themselves taking gaming to a whole new level through a massive project at U-M C.S. Mott Children’s Hospital. Thanks to their efforts – along with the generosity of dozens of other individuals and groups – patients at Mott will now find their room equipped with an Xbox 360.
Out of the classroom, into the real world
Efrain Segarra was a freshman when he took Professor David Chesney’s course.
“Dr. Chesney calls it Gaming for the Greater Good,” says Segarra, referring to the course’s focus on developing software that can benefit children with disabilities.
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