遺伝学
遺伝子検査の結果を読み解き、マルファン症候群やロイス・ディーツ症候群、血管型エーラス・ダンロス症候群といった疾患であるかどうかを診断することは、困難な場合もあります。そこで、検査結果の意味や次に検討すべきステップを理解をしやすくするための…
遺伝子検査の結果を読み解き、マルファン症候群やロイス・ディーツ症候群、血管型エーラス・ダンロス症候群といった疾患であるかどうかを診断することは、困難な場合もあります。そこで、検査結果の意味や次に検討すべきステップを理解をしやすくするための…
New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 59:51-1:00:45 Q:One person asked the important question. Is there a recommended age cutoff for peripheral aneurysms when considering genetic testing? 末梢の動脈瘤…
New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 17:08-20:51 The recommendations are written like this, so I won't go over every single one but it emphasizes again in somebody, in a patient who has thoracic aort…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:01:49-1:06:09 So someone is asking your thoughts again on the variability within one type of Loeys-Dietz-like syndrome if you think it's more likely to b…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 38:00-39:34 Is there a way to find out if a family member that has already passed had the gene? We've had some family members that have had similar health …
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 15:50-16:56 So in addition to panel testing for aortopathy some people get, come to a genetic diagnosis because they have a testing technology available th…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 12:53-15:48 My name is Gretchen MacCarrick. I'm a genetic counselor at Johns Hopkins. I've been with their connective tissue aortopathy group for about 19 …
