Surgical Thresholds for Root and Ascending Aortic Replacement in Loeys- Dietz Syndrome Hi, I'm Alan Braverman. I'm the director of the Marfan syndrome and aortopathy center at Washington University in St Louis school of medicine and on beh…

Surgical Thresholds for Root and Ascending Aortic Replacement in Loeys- Dietz Syndrome Hi, I'm Alan Braverman. I'm the director of the Marfan syndrome and aortopathy center at Washington University in St Louis school of medicine and on beh…

動脈瘤・解離の管理Vascular Surgery 3:29-5:23 You've seen this picture. This is from Gustavo Oderich's paper where a few years ago he talked about the distribution of arteriopathy in vascular EDS and then on the right hand side is our paper…

LDS Guidelines: Then vs. Now 1:13:55-1:16:15 Q:Any evidence of prevalence of autoimmune conditions with Loeys-Dietz syndrome like rheumatoid arthritis or other immunity, I guess, autoimmune conditions? LDSでは、関節リウマチのような自己免疫…

LDS Guidelines: Then vs. Now 1:09:38-1:11:01 Q:Any thoughts on neuropathy in Loeys-Dietz syndrome and/or, you know, how they impact pain management? LDSでの神経障害について教えてください。痛みの管理法に影響はあるのでしょうか？ A:Yeah, so I…

LDS Guidelines: Then vs. Now 1:04:25-1:07:52 Q:Kind of along the lines of medication in that first question or that first slide we were talking about non-penetrance. Can you talk a little bit just about your thought process when you're cou…

LDS Guidelines: Then vs. Now 58:37-59:43 From a lung, pulmonary perspective we know, do know that there is restrictive lung disease, that sleep apnea may be underdiagnosed in our population, so again in terms of like general fatigue and pe…

LDS Guidelines: Then vs. Now 57:36-58:37 In terms of eye disease we do see retinal detachment. I know some of your questions are, what's common, what's not, what's rare, what do I have to be worried about. 眼の疾患については、一般的な眼の…

LDS Guidelines: Then vs. Now 54:34-57:35 In 2014 we did talk about kind of neurological issues. In the first reports of Loeys-Dietz syndrome we had some cases of individuals with intellectual disability, however, we think this is really re…

LDS Guidelines: Then vs. Now 52:45-54:31 Great and then we just want to end with a few slides of kind of like all the other stuff and so we know that in patients with Loeys-Dietz syndrome there can be dental anomalies that can include clea…

LDS Guidelines: Then vs. Now 50:21-52:43 Do you want to say anything about this or this is a kind of an outline, you know, when we look at Loeys-Dietz syndrome compared to Marfan syndrome, compared to Shprintzen-Goldberg syndrome, which Dr…

LDS Guidelines: Then vs. Now 46:57-50:15 Same thing for gastroenterology and nutrition for Loeys-Dietz syndrome. We do follow the growth of our patients, especially our young kiddos very closely, especially if someone is looking at a surge…

LDS Guidelines: Then vs. Now 44:57-46:54 So I know Tony is taking notes for us, Dr. Guerrerio and if he has anything to jump in but we do know or we have appreciated, I'm going back to 2014 that there is an increased evidence of allergic d…

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 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.…

LDS Guidelines: Then vs. Now 19:26-21:34 We're now understanding exactly why medications like losartan work in these conditions. Again by work that was done by Elena McFarlane we've learned that cells within the aortic root, so-called seco…

LDS Guidelines: Then vs. Now 17:55-21:34 So Elena McFarlane, another investigator at Johns Hopkins, who is in my lab at the time did a beautiful job of assessing mouse models of Loeys-Dietz syndrome. These mice show very dramatic aortic ro…

LDS Guidelines: Then vs. Now 16:20-17:51 So we had learned a lot about Marfan syndrome and its relationship to TGF beta. Loeys-Dietz syndrome we now know has six different identified genes. All of them relate directly to the TGF beta signa…

LDS Guidelines: Then vs. Now 7:54-10:15 So one of the big things that differentiated Loeys-Dietz syndrome from Marfan syndrome in the very beginning was this recognition, right? that aortic diameters could show dissections or tears at smal…

LDS Guidelines: Then vs. Now 6:30-7:47 So kind of a late breaking also research discovery that we wanted to bring forward is that there was a paper earlier this year that described a possible new Loeys-Dietz gene, so this is not clinically…

LDS Guidelines: Then vs. Now 4:23-6:27 So again, this is the, the primer that many specialists, most of them from Johns Hopkins, because back in the day we had the most experience with Loeys-Dietz, so our specialist came together to write …