ロイス・ディーツ症候群（LDS）
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 …
New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 1:04:10-1:05:06 Q:Here's a question my daughter was diagnosed with Loeys-Dietz but dad and I were tested and don't have it. Should we get an echo to check the aor…
New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 58:58-59:50 Q:Here's a question when my husband and children go to their cardiology appointments do they need an MR, CT as well as an echo? 夫と子供が循環器内科で…
New ACC/AHA Aortic Disease Management Guidelines: What do they mean for you? 40:54-46:17 Okay moving on to pregnancy. As Maya commented earlier that the emphasis on shared decision making and the importance of counseling, genetic counselin…
30:17-36:57 This, this slide just emphasizes a little bit of difference in management and Loeys-Dietz syndrome, so in Loeys-Dietz syndrome imaging because aneurysm disease is more widespread than in Marfan syndrome that baseline MR or CT a…
Loeys-Dietz Gastroenterology and Allergy Q&A 42:34-45:52 Q:At what point do you decide a child needs a feeding tube? In this example as a seven-year-old that's really struggling to put on weight. 栄養チューブが必要となるのはどの時点でしょ…
Loeys-Dietz Gastroenterology and Allergy Q&A 38:57-40:39 Q:We've had a couple of questions. I see Julie, I know Lincoln has tree nut allergies, so asking about a young child a type 2, you know, when would you use an EpiPen, would you not u…
Loeys-Dietz Gastroenterology and Allergy Q&A 35:55-37:00 Q:Would you say the same for chronic or even like periodic vomiting? 慢性的な嘔吐や周期的な嘔吐の対処法を教えてください。 A:Absolutely, so, if, if, if you have chronic vomiting that …
Loeys-Dietz Gastroenterology and Allergy Q&A 34:39-35:54 Q:How about treatments or medications to identify or alleviate with chronic diarrhea? 慢性的な下痢の原因を調べる方法、対処法を教えてください。 A:I think there again I think a GI work…
Loeys-Dietz Gastroenterology and Allergy Q&A 32:43-34:24 Q:When, when it gets to the point that a child would need a feeding tube like ages two or three because of the they're not able to gain weight should they expect to have that tube fo…
Loeys-Dietz Gastroenterology and Allergy Q&A 28:59-32:41 Q:Several questions about sort of like general weight gain I know you touched on that, so if we could expand a little bit on, you know, aside from Miralax, exercise, fiber for kids o…
Loeys-Dietz Gastroenterology and Allergy Q&A 19:00-24:14 Q:Inflammation of the colon, is this common a common part of LDS? What is a solution and then this person is saying, "I've had two scopes, both just showed inflammation", so wonderin…
Loeys-Dietz Gastroenterology and Allergy Q&A 11:10-11:41 Lastly, there are disorders of gut-brain interaction. This is a newer name, a functional abdominal pain, is a name functional abdominal disorders, irritable bowel syndromes, so these…
Loeys-Dietz Gastroenterology and Allergy Q&A 9:08-11:08 Very frequently in connective tissue disorders such as Loeys-Dietz syndrome you will see constipation very frequently. ロイス・ディーツ症候群のような結合組織疾患では、頻繁に便秘がみら…
Loeys-Dietz Gastroenterology and Allergy Q&A 7:05-9:06 Also in connective tissue disorders and in some people with Loeys-Dietz syndrome they can have weight gain, can be problematic, so this is also seen in Marfan syndrome as well. It can …
Loeys-Dietz Gastroenterology and Allergy Q&A 6:00-7:03 So another kind of food allergy, which is more thought of as a slow motion food allergy, so while this is, while this is a food allergy similar to those that can cause hives or trouble…
Loeys-Dietz Gastroenterology and Allergy Q&A 3:27-5:58 Almost one-third of people with types one and two LDS will have food allergy. It can be really tricky to diagnose food allergy and distinguish it from food intolerances which are also …
Loeys-Dietz Gastroenterology and Allergy Q&A 2:59-3:25 Eczema, which is also known as atopic dermatitis, is also quite common in people with Loeys-Dietz syndrome. This is a chronic skin disease characterized by redness, dryness and as you …
Loeys-Dietz Gastroenterology and Allergy Q&A 0:33-2:58 So several years ago we showed that people with Loeys-Dietz syndrome are more likely to have allergic disease than people in the general population but it's important to note that this…
2022年8月11日 私は46歳のシングルマザーで、20歳になる一人息子のジェイコブがいます。成長する過程で常に問題を抱えてきました（とはいえ、自分自身に問題があると思ったことはありません）。二分口蓋垂に可動域の広い関節、漏斗胸、心房細動と上室性頻拍…
2021年11月12日 タミー・アスプルンド 私がロイス・ディーツ症候群1型と診断されたのは、2020年3月、53歳の時です。しかし物語は、入園準備のため息子を小児科に連れて行った2000年から始まります。「カチカチ」という心音を聴いた小児科の医師から、循環器…
Family Planning and Pregnancy: US and Europe Perspectives 56:04-57:40 Now cervical instability is another, another spiral manifestation that has an increased risk in Loeys-Dietz syndrome. This can be assessed with an x-ray of the cervical …
49:01-50:02 So to conclude I would also make some, some discuss some aspects of pregnancy in patients with Loeys-Dietz syndrome although the data is much scarcer in this group and of course we know that the risk of aortic dissection during…
2021年11月30日 2020年5月、コロナ禍で世界中が外出制限の中、ニューヨーク州クイーンズに住むユリアと夫は、幸せを噛みしめながら初出産に向けた準備を進めていました。ユリアは学生で、母子ともに経過はすこぶる良好に見えました。 妊娠38週目。事態は一変…
