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…

Vascular Surgery 1:55-3:27 Dissection on the other hand is different. Dissection means that there's a tear in the wall of the artery or the aorta and blood then flows between those layers and what that does is then as you can see in the pi…

Vascular Surgery 0:18-1:52 Basically my goal for the audience here is to learn the difference between aneurysms and dissections because frequently people can confuse the two. I will show you the distribution of the arterial pathology in va…

LDS Guidelines: Then vs. Now 1:21:13-1:24:12 Q:Last question for you, Dr Dietz. In terms of exercising what are your suggestions in terms of kind of like heart rate recommendations or kind of what guidelines say and how you think or feel a…

LDS Guidelines: Then vs. Now 1:17:49-1:20:45 Q:If anyone has any thoughts on just osteoporosis or joint degradation we might see in Loeys-Dietz syndrome and any type of supplement in terms of calcium or things like that? LDSで見られる骨粗…

LDS Guidelines: Then vs. Now 1:16:18-1:17:26 Q:There are few questions about the use of inhalers and flovent and albuterol, which is kind of in your realm, too. Can you address that? フルタイドやサルブタモールなどの吸入ステロイドについて、…

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 1:11:03-1:13:52 Q:Any correlation or conversation about POTS in Loeys-Dietz syndrome? POTSとLDSは関連がありますか？ A:Yeah, so POTS stands for Postural Orthostatic Tachycardia Syndrome. Basically what it's desc…

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…

2023年9月23日 The Marfan Foundation 「人生が一変したあの瞬間…」 2020年7月31日。僕の人生が一瞬で変わってしまった日。早めの夕食を済ませて帰宅すると、左腕が突然感覚を失った。家はひんやりとしていたのに、汗が吹き出してくる。左腕の感覚はない。妹…

LDS Guidelines: Then vs. Now 1:08:02-1:09:32 Q:Is there any precautions with arterial line insertion for anesthesia and the risk of arterial dissection in Loeys-Dietz patients, so maybe also like catheter procedures. LDSでは、血管に管を入…

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 1:01:25-1:04:24 Q:One of the questions, I'll just kind of start picking some, is about you talked about the meta-analysis which was awesome and then you touched upon adding a beta blocker. Can you just let us k…

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 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…