Showing posts with label genetic abnormality. Show all posts
Showing posts with label genetic abnormality. Show all posts

Saturday, April 14, 2018

The Reason why this Teenage Girl was Bleeding so Excessively

A story in the New York Times Magazine told of a teenage girl from New Jersey who was studying with her friends and laid down on the ground as she felt she was going to become unconscious saying that it was a common occurrence, and as she laid there, a puddle of blood formed around her coming from her mouth and nose, her friends were not able to find a pulse and ended up alling the nurse and 911. As mentioned before, this was not the first time this girl had the experience, as it happened a few months earlier.
After meeting with a cardiologist and wearing a heart monitor for a month, the results came back normal but the cardiologist decided it would be best to implant a defibrillator on her heart in case it happened a third time. Meanwhile, multiple tests were done to find out where the blood was coming from because there was no evidence of anything that would cause her bleeding in her Upper GI tract or her lungs. She was in the hospital for about a week before anything was found. Dr. Tej Phatak, who was a pediatrician and radiologist for the patient saw an irregularly shaped splash of brightness in the bottom of her right lung, which he immediately recognized as pulmonary arteriovenous malformation (PAVM), which is an abnormal connection between a pulmonary vein and an artery, which are prone to tearing which can cause dangerous bleeding. The patient was sent to Yale-New Haven Hospital to have surgery to have the PAVM closed up by a coiled wire where blood would clot, sealing off the vessel.
This abnormality is often seen in patients with hereditary hemorrhagic telangienctasia (HHT), which often causes abnormal blood vessels to form and is normally inherited from the parents, but genetic testing showed that this teenage girl has the mutation while her parents do not, meaning that the mutation happened after conception.


Article: Why Was This Teenager Bleeding So Excessively?
More information: What is HHT?

Saturday, September 30, 2017

Research found linking anorexia nervosa with genetic abnormality

Image result for anorexia nervosa chromosome 12
An article on Science Daily states the recent discovery that links anorexia nervosa with a genetic abnormality. People suffering from the disease were tested and the locus was on chromosome 12. Genetic connections between anorexia and a plethora of other mental illnesses were found during the research. The research also concluded that anorexia nervosa is correlated with BMI and metabolism. Which concludes that anorexia nervosa is not just a mental illness but also has metabolic origin. This new finding will hopefully yield a treatment for anorexia nervosa.
I believe this new discovery is extraordinary because it will spark interest in other scientists to continue studying the disease. Anorexia is a deadly mental illness that affects the lives of many people. Therefore, it is a reassuring that steps are being taken to find out more about the disease. New studies and discoveries will possibly generate a treatment or medicine for anorexia. I think it is incredible that a chromosome anomaly is the culprit behind the disease because now those suffering with the disease can be better helped and understood.
https://www.sciencedaily.com/releases/2017/05/170512081332.htm
https://www.news-medical.net/news/20170612/Anorexia-nervosa-linked-to-genetic-anomalies-on-chromosome-12.aspx