Aging with Marfan and Related Conditions (VIrtual Medical Symposium Series, 5/6/19) 10:06-12:36 But going back to the general population, if you look at the causes of death, they're split between cardiovascular disease and cancer, so this …

Aging with Marfan and Related Conditions (VIrtual Medical Symposium Series, 5/6/19) 8:38-10:06 And then in the Marfan syndrome, in 1972 the median survival was age 48 that meant that half the patients were gone before the age of 48 and hal…

How do people get Marfan syndrome? Girl: I was wondering how people get marfan syndrome. How does it start out with it? 女の子： どうしてマルファン症候群になるんですか？原因は何ですか？ Dr Liang: Okay, how do people get Marfan syndrome? Ok…

Aging with Marfan and Related Conditions (VIrtual Medical Symposium Series, 5/6/19) 7:12-8:37 So as she faces the future, you know, what health issues can she expect? Just simply, you know, from aging and also are there specific problems t…

Aging with Marfan and Related Conditions (VIrtual Medical Symposium Series, 5/6/19) 6:21-7:11 And on the left panel here you can see her image. This is a side view and I think you can see my pointer, so these are the vertebral bodies and t…

Aging with Marfan and Related Conditions (VIrtual Medical Symposium Series, 5/6/19) 資料：https://info.marfan.org/hubfs/Marfan%20Syndrome%20and%20Aging.pdf 4:53-6:20 We're going to talk about aging a little bit in general and then, then in…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 56:55-59:00 Q:Okay, you only have a couple more minutes, so I'm gonna just ask one more question here that are the kind of two people have asked about. It's about the dosing …

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 55:02-56:54 Q: Okay, thank you. Back to, I guess, basics and what is a diagnostic pathway to Loeys- Dietz syndrome? Is a normal echo enough to rule it out? So what are the st…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 52:15-53:20 Q: I actually have a follow-up question to that, that. Somebody else had sent about with the stenting. Their, their doctors said that the arteries are too tortuou…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 50:27-52:12 Q:How common are dissection in arteries and vessels other than in the aorta with Loeys-Dietz? ロイス・ディーツ症候群では、大動脈以外の動脈や血管で解離は起きやすい…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 49:26-49:56 So my final take-home message is hope and extreme optimism. These are some ofthe young folks that I have the privilege of caring for with Loeys-Dietz syndrome and…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 47:34-49:25 So in the past medical science has focused on big populations, so that we've asked the simple question, "What works best for the average patient with a given cond…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 46:26-47:33 Medical management in general right now we suggest angiotensin receptor blockers like losartan at high dosing. 現在の一般的な管理方法としては、ロサルタンのようなA…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 45:45-46:25 We have prepared a primer for physicians caring for individuals with Loeys-Dietz syndrome. We've tried to cover all of the important topics shown on the bottom of…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 45:08-45:43 So the take-home message is that I think we've made great progress in understanding what's driving this complication and that in the future either maneuvers like …

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 42:59-45:07 And we do know that pregnant women with connective tissue disorders can show a strong risk for tear of the aorta. We've recently come up with a hypothesis that th…

遺伝子編集技術CRISPRのことを聞いたことがありますか？将来、CRISPRによってマルファン症候群を治療したり、完治させることさえできるのでは？と考えたことはありませんか？多くのThe Marfan Foundationの会員の方からCRISPRについての質問が寄せられていま…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 41:44-42:58 So my prediction is that 10 years from now basic science research will have fully elucidated all of the mechanisms for Loeys-Dietz syndrome, that on this basis th…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 39:23-41:43 We've been able to identify an entire path of abnormalities that ultimately leads to abnormal blood vessel maintenance and strength in Loeys-Dietz syndrome. ロイ…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 38:10-39:22 So the take-home message is as in Marfan syndrome drugs such as losartan could prevent abnormal aortic growth in mouse models and we truly believe that they hold …

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 35:46-38:10 We now have gone on to make mice with Loeys-Dietz syndrome by introducing mutations that we had previously seen in people into the the corresponding gene in the m…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 35:01-35:45 So the take-home message is that vascular disease occurs throughout the arterial tree and therefore, we have to image widely, that aneurysms tend to rupture at sm…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 33:39-35:00 We know that aortic tear, something we call aortic dissection is common in Loeys-Dietz syndrome and that it can occur at young ages: the youngest person that we s…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 32:03-33:38 We do know that blood vessels are a major problem in people with Loeys-Dietz syndrome. As I mentioned, we commonly see enlargement at the root of the aorta in alm…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 30:46-32:02 So my first prediction for the next 10 years is that within that time we will know all of the genes for Loeys-Dietz syndrome and most other aneurysm conditions an…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 28:50-30:48 Now we've now learned that Loeys-Dietz syndrome is also caused by abnormalities in the TGF-β pathway. ロイス・ディーツ症候群は、TGF-βの伝達経路に異常が生じること…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 25:35-28:50 There are other features of Loeys-Dietz syndrome that we've learned over the years. これまでの経験から、ロイス・ディーツ症候群では他にも特徴が現れることがわかって…

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 24:39-25:34 Now many of you probably know that the blood vessels in Loeys-Dietz syndrome can be windy, something that we call tortuous. As you can see in the pictures on the …

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 22:38-24:38 There are a number of gastrointestinal conditions that can be seen in Loeys-Dietz syndrome. One of the most common is a condition called eosinophils esophagitis, …

Loeys Dietz Syndrome: Virtual Medical Symposium Series (11/8/18) 21:07-22:37 Allergies we've learned are very common in people with Loeys-Dietz syndrome. One type of allergy that's quite common is food allergy, which can be multiple, meani…