sma genetic syndrome Videos

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A woman was left in tears when she finally found her rescue pup's family after doing a DNA test. <br/><br/>Cathy, 28, adopted mutt Wilee five years ago but knew nothing of his past.<br/><br/>Cathy decided to test him immediately to find out his genetic makeup and understand whether he was at risk of certain diseases.<br/><br/>Cathy used Embark, a genetic testing company, which help dog owners find their pet's breed ancestry, genetic health risks and relatives.<br/><br/>Months later, Cathy received a notification saying Wilee's mother had been found.
⏲ 1:36 👁 10M
Biogen
⏲ 1 minute 48 seconds 👁 11.7K
Stanford CME
⏲ 53 minutes 35 seconds 👁 1.3K
A toddler born with a cyst the size of a pineapple under her arm is so heavy her spine has started to curve.<br/><br/>Jessi Campbell, two, was born with an estimated 1kg growth on her left arm, chest and fingers.<br/><br/>She was diagnosed with lymphatic malformation before birth – where lymph vessels form abnormally – and Kippel-Trelauney Syndrome at 11-months-old in July 2022. <br/><br/>The syndrome is a collection of symptoms - port wine stains, varicose veins and hypertrophy which is the extra growth of a limb. <br/><br/>Jessi has had three rounds of sclerotherapy – where a solution is injected into the veins to make the lymph collapse and shrink the cyst - and will continue to have more.<br/><br/>She took longer to walk – due to her balance – and is now struggling with a curved spine due to the weight of her arm. <br/><br/>The weight of her arm changes \
⏲ 0:46 👁 7M
ABC News
⏲ 10 minutes 28 seconds 👁 62.7K
NationwideChildrens
⏲ 2 minutes 24 seconds 👁 83.1K
Newly-Discovered Gene Variant , Could Help Prevent or Treat , Alzheimer's Disease.<br/>'Newsweek' reports that scientists have uncovered <br/>a genetic variant that has the potential to reduce <br/>the odds of developing Alzheimer's by as much as 70%.<br/>The discovery could reportedly lead to new methods to <br/>effectively treat or prevent the disease which impacts <br/>approximately 5.8 million people in the United States alone.<br/>Some genetic variants have been found to have an <br/>association with an increased likelihood of developing <br/>the disease, while other variants offer protection. .<br/>A team from Columbia University found that <br/>genes involved with the production of fibronectin <br/>play a crucial role in developing Alzheimer's.<br/>Healthy individuals usually only have fibronectin present <br/>in small amounts along their blood-brain barrier, while <br/>those with Alzheimer's have much higher quantities.<br/>It's a classic case of too much <br/>of a good thing. It made us think <br/>that excess fibronectin could be <br/>preventing the clearance of [abnormal <br/>protein clumps] from the brain, Caghan Kizil, co-leader of the study and professor of <br/>neurological sciences at Columbia University's Vagelos <br/>College of Physicians and Surgeons, via 'Newsweek'.<br/>The team believes that methods aimed at reducing <br/>fibronectin could play a crucial role in developing <br/>new treatments and preventative measures. .<br/>Anything that reduces excess <br/>fibronectin should provide some <br/>protection, and a drug that does <br/>this could be a significant step <br/>forward in the fight against <br/>this debilitating condition, Caghan Kizil, co-leader of the study and professor of <br/>neurological sciences at Columbia University's Vagelos <br/>College of Physicians and Surgeons, via 'Newsweek'.<br/>Our findings suggest that...<br/>we may be able to develop new <br/>types of therapies that mimic <br/>the gene's protective effect <br/>to prevent or treat the disease, Caghan Kizil, co-leader of the study and professor of <br/>neurological sciences at Columbia University's Vagelos <br/>College of Physicians and Surgeons, via 'Newsweek'.<br/>The Columbia University team's <br/>findings were published in the <br/>journal 'Acta Neuropathologica.'
⏲ 1:31 👁 14.7M
The France Foundation
⏲ 1 minute 50 seconds 👁 7.9K
Stanford CME
⏲ 45 minutes 18 seconds 👁 644
Meet the minimalist mum who has thrown out more than 1,000 items from her home - including her kid's drawings.<br/><br/>Kylie Perkins, 25, adopted minimalist lifestyle after her son, Bo, five, was diagnosed with Doose syndrome - a rare type of epilepsy. <br/><br/>In a bid to \
⏲ 3:16 👁 1.2M
Alila Medical Media
⏲ 5 minutes 13 seconds 👁 93.8K
Stanford CME
⏲ 45 minutes 34 seconds 👁 609
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