Entries from 2026-01-01 to 1 year
Choosing the Right Genetic Testing for Marfan, LDS, VEDS, Stickler, and Related Conditions 13:40-20:38 So, now that we have some of those terms down, let's talk about direct-to-consumer, or DTC, testing. So, why is direct-to-consumer testi…
Insights from the LDS Natural History Study at NIH: Audiology and Otology 1. 難聴の頻度とサブタイプによる違い LDS患者において難聴は非常に一般的な所見であり、調査対象者の約38%に認められました。難聴の種類はサブタイプによって明確に分かれる傾…
Choosing the Right Genetic Testing for Marfan, LDS, VEDS, Stickler, and Related Conditions 5:30-13:39 First, let's make sure that we are all on the same page about the terminology that we're going to be using. I'm going to explain this the…
対象となる疾患と背景 対象は、マルファン症候群、Loeys-Dietz症候群、血管型エーラスダンロス症候群など、遺伝性大動脈・血管疾患をもつ子どもです。 これらの疾患では大動脈拡大・解離リスクが高く、血圧や心拍数上昇を引き起こしうる刺激薬の使用が懸念さ…
Choosing the Right Genetic Testing for Marfan, LDS, VEDS, Stickler, and Related Conditions 4:48-5:30 So tonight we're going to talk first about some kind of Genetics 101, and then we'll talk about the direct-to-consumer testing landscape. …
What You and Your Healthcare Professionals Should Know About Marfan Syndrome - Webinar 1:02:27-1:03:18 Q: What evidence is there to implement an endoprosthesis in a descending aortic aneurysm in Marfan? Q: マルファン症候群における下行大動…
What You and Your Healthcare Professionals Should Know About Marfan Syndrome - Webinar 1:05:11-1:06:39 Q: How can we educate young adults with Marfan syndrome in a way that is not depressing or overly scary? Q: 若者世代のマルファン症候群の…
What You and Your Healthcare Professionals Should Know About Marfan Syndrome - Webinar 1:04:21-1:05:08 Q: What are the protocols for someone with Marfan who is unconscious? Is it okay to start CPR? Q: 意識不明のマルファン症候群患者に対する…
What You and Your Healthcare Professionals Should Know About Marfan Syndrome - Webinar 1:03:19-1:04:19 Q: What issues are being seen in people over the age of 70 with Marfan syndrome? Q: 70歳を超えたマルファン症候群の患者さんでは、どのよう…
What You and Your Healthcare Professionals Should Know About Marfan Syndrome - Webinar 1:01:18-1:02:25 Q: What are the restrictions around weightlifting for people with Marfan syndrome? Q: マルファン症候群の患者さんが重いものを持ち上げる場…
What You and Your Healthcare Professionals Should Know About Marfan Syndrome - Webinar 59:18-1:00:19 Q: My grandson was diagnosed at age 10 due to an ascending aortic aneurysm, even though genetic testing did not show the known variants. H…
What You and Your Healthcare Professionals Should Know About Marfan Syndrome - Webinar 57:41-59:14 Q: My son is currently at 4.5. We have been told repeatedly not to wait until 5.0 to start the surgery process. We would like to be proactiv…
What You and Your Healthcare Professionals Should Know About Marfan Syndrome - Webinar 56:47-57:39 Q: If my sibling has a confirmed genetic diagnosis for Marfan, do I also need to get genetic testing? My father and I were both diagnosed by…
