LDS Guidelines: Then vs. Now 42:15-44:56 In terms of pregnancy I don't know that there's a heck of a lot of new changes either since 2024, or 2014, something to be aware of is that the angiotensin receptor blockers that Dr. Dietz was descr…

LDS Guidelines: Then vs. Now 40:04-42:13 In terms of orthopedics, again when we were focused and had our knowledge mainly about Loeys-Dietz types one and two. We did see that many patients had cervical spine instability, so their spine and…

LDS Guidelines: Then vs. Now 39:07-40:01 So in terms of vascular surgery as well we really want to make sure in the upcoming guidelines that we get our vascular surgery colleagues involved. This is a slide again. My, some of you might have…

LDS Guidelines: Then vs. Now 33:36-38:54 So there are other medications that we suggested avoiding back in 2014. 2014年のガイドラインでは、避けることが推奨されていた薬があります。 One was a class of medications commonly used to treat migra…

LDS Guidelines: Then vs. Now 31:08-33:34 So we have now directly tested this in mouse models of Loeys-Dietz syndrome. I'm here using a calcium channel blocker, a common one called amlodipine. Importantly, in these studies it didn't matter …

LDS Guidelines: Then vs. Now 29:04-31:03 So we, as we've talked about we were, we and other groups are trying to understand what medications might be good for someone with a vascular connective tissue disorder. A different question that I …

LDS Guidelines: Then vs. Now 27:01-28:55 In terms of cardiovascular management, what we would say and continue to say is that people should be getting at least yearly echocardiograms. Clearly we're doing that a little bit more frequently i…

2022年11月21日 生まれたばかりのリンカーンには、ピエール・ロバン・シーケンス（小顎症、口蓋裂、舌下垂）の特徴がみられました。さらに、両目は斜視で、透き通るような柔らかい皮膚、足の指は長く、親指は内側を向いていました。口蓋裂があったことから遺…

LDS Guidelines: Then vs. Now 26:27-26:59 Just as a reminder, you know, there is overlapping severity in all different types of Loeys-Dietz syndrome, kind of big picture in general. What we kind of say is TGFBR1 and 2 tend to, as a whole, b…

LDS Guidelines: Then vs. Now 24:41-26:25 In our 2014 guidelines we didn't really address any specific variant information and so that means that, you know, we have these six different types of Loeys-Dietz syndrome with gene variants or gen…

LDS Guidelines: Then vs. Now 24:14-24:39 Some questions have come up about well what about in your legs, what about aneurysms there? They have been reported in the literature, especially aneurysms kind of behind your knees called popliteal…

LDS Guidelines: Then vs. Now 21:49-24:13 In terms of vascular imaging guidelines these have generally remained the same. In the very beginning we are recommending head to pelvis imaging at baseline as well as imaging about every two years.…