ロイス・ディーツ症候群（LDS）
Insights from the LDS Natural History Study at NIH: Audiology and Otology 1. 難聴の頻度とサブタイプによる違い LDS患者において難聴は非常に一般的な所見であり、調査対象者の約38%に認められました。難聴の種類はサブタイプによって明確に分かれる傾…
対象となる疾患と背景 対象は、マルファン症候群、Loeys-Dietz症候群、血管型エーラスダンロス症候群など、遺伝性大動脈・血管疾患をもつ子どもです。 これらの疾患では大動脈拡大・解離リスクが高く、血圧や心拍数上昇を引き起こしうる刺激薬の使用が懸念さ…
Hearing and Ear Findings for Marfan Foundation Annual Conference この研究は、希少な結合組織疾患である**ロイス・ディーツ症候群（LDS）**の患者における聴覚および耳の所見について調査したものです。 以下に主要な点をまとめます。 ロイス・ディーツ…
What's New in LDS Research - Dental Development for Marfan Foundation Annual Conference ロイス・ディーツ症候群（LDS）患者の歯科発達に関する最新の研究について、米国国立歯科頭蓋顔面研究所（NIDCR）のジャニス・リー博士が講演しました。 この研究…
LDS患者はCPR（心肺蘇生法）を受けるべきでしょうか？CPRが推奨されないような状況はありますか？ LDSは「活動停止中」だと言われました。どういう意味ですか？ 表現型と遺伝子型についてですが、目立った外見的な特徴がない場合でも、LDSのことを心配しなけ…
結合組織疾患における全般的な消化器の懸念 結合組織疾患患者で最も一般的な消化器の問題とは？ 診断と治療法 専門医にかかるべきタイミング、サイン、専門知識のある医師や医療機関を受診することの重要性について 標準的な消化器の薬（例 プロトンポンプ阻…
Dural Ectasia in Marfan and Loeys-Dietz Syndrome with Dr. Wouter Schievink 硬膜拡張とは、脳脊髄液を含む硬膜嚢が異常に拡大することです。硬膜は脳と脊髄を覆い、脊髄液を保持する丈夫な膜で、クッションとして機能します。 診断には、MRIスキャンが最…
Loeys-Dietz Syndrome Frequently Asked Questions 1. 医療チームの「司令塔（クオーターバック）」と専門家の選び方 LDSの管理は非常に複雑ですが、すべての医師がこの疾患に精通している必要はありません。 理想的な医師像: 最も重要なのは、自分の専門外…
Managing HTAD: Key Insights from the 2024 ESC Guidelines 53:52-57:21 Q: Can you speak to the pros and cons of MRA versus gated CT for measurements of the aortic root in LDS or whether there is a case for both, for both tests in surveillanc…
Managing HTAD: Key Insights from the 2024 ESC Guidelines 38:04-42:10 And you can see this in our guidelines. So surgery is indeed indicated in patients with Marfan syndrome who have aortic root disease with a diameter of 50 millimeters. Th…
Managing HTAD: Key Insights from the 2024 ESC Guidelines 33:45-38:03 So first I would like to share some differences between Marfan syndrome, Loeys-Dietz syndrome and Ehlers-Danlos syndrome, which I will get back to later. 私からはまず、MF…
Managing HTAD: Key Insights from the 2024 ESC Guidelines 8:42-16:55 So regarding the imaging, you know, that for the aortic diseases in general, imaging is really crucial for the diagnosis and also for the follow-up. It is the cornerstone …
Applying AHA's 2024 Scientific Statement: Navigating Diagnosis & Management of Pediatric Aortopathy 44:00-48:06 Q: For the shared decision making, it would be helpful to know, uh, to better, to know, excuse me, to know better estimates of …
Applying AHA's 2024 Scientific Statement: Navigating Diagnosis & Management of Pediatric Aortopathy 39:20-41:15 Q: And then what about musical instruments? My middle school LDS1 child was just told no wind instruments. 楽器についてはどうで…
Applying AHA's 2024 Scientific Statement: Navigating Diagnosis & Management of Pediatric Aortopathy 13:02-15:02 And so for all of these slides, what we do is we basically provide a framework for how to manage patients, and this framework n…
Applying AHA's 2024 Scientific Statement: Navigating Diagnosis & Management of Pediatric Aortopathy 9:30-11:30 So just to give some highlights, this is big picture taking a step back of the Imaging table here. We'll do a zoom up, but the I…
Navigating GI Management in LDS 49:38-51:39 Q: You mentioned that steroids could be harmful for bones. Do the benefits outweigh risks if using steroids to treat asthma or EoE? ステロイドを服用すると骨への悪影響の可能性があるというお話があ…
Navigating GI Management in LDS 46:23-47:56 Q: Can EoE be triggered hours after exposure to the allergen? Is that different than a long-term symptom onset? I think I'm not exactly sure how the question... maybe you understand what they're …
Navigating GI Management in LDS 42:52-45:03 Q: Is there a correlation between LDS and malabsorption? LDSと吸収不良との間に関連はありますか？ A: Malabsorption is when your body cannot appropriately absorb all the nutrients you're eating. Th…
Navigating GI Management in LDS 39:40-41:46 Q: Doctors are quick to recommend NSAIDs for different problems related to inflammation that is seen in people with connective tissue conditions, people with LDS. However, we understand that chro…
Navigating GI Management in LDS 35:31-39:28 Q: I will say that there are a couple of themes coming up. One is about medication management and EoE, another's on like EoE. So I'm going to just try and sort through these and go through them i…
Navigating GI Management in LDS 34:06-35:01 So, a summary and then I'm happy to take questions. では、まとめです。後ほど質問にお答えします。 BMI should be looked at at every visit. Proper nutrition can lead to a faster recovery from surger…
Navigating GI Management in LDS 32:58-34:05 Other anatomic issues which we've seen in Loeys-Dietz syndrome - these are rare events, so I can't conclusively say at this point that these are more likely to occur in Loeys-Dietz syndrome, only…
Navigating GI Management in LDS 30:15-32:57 So last subject is just some anatomic considerations. Hernias tend to be very common in LDS. There are hernias like, for example, where you've had a surgery where there's been an incision in the …
Navigating GI Management in LDS 27:42-30:12 So the last thing in terms of... oh, there are a couple of other things. One of them is disorders of gut-brain interaction or functional GI disorders, and I want to talk about this because this i…
Navigating GI Management in LDS 24:42-27:40 Another type of intestinal inflammation that is more common in people with LDS is something called inflammatory bowel disease (IBD). Inflammatory bowel diseases occur when your white blood cells …
Navigating GI Management in LDS 21:54-24:40 Let's talk about some inflammation. So I talked about the fast allergy; there's a slow motion food allergy that can occur in the lining of the intestines. This is eosinophilic GI disease. The mos…
Navigating GI Management in LDS 18:39-21:51 I'm gonna take some time to talk about food allergies here, so there's two kinds of food allergies. This first kind of food allergy I'm going to talk about is an anaphylactic or IgE-mediated food…
Navigating GI Management in LDS 12:25-18:38 We're going to talk about constipation a little bit. This is super common in people with connective tissue disorders. Well, it's super common in general, but in people with connective tissue diso…
Navigating GI Management in LDS 8:24-12:23 So how does nutrition feed into bone health? People with Loeys-Dietz Syndrome have weak bones, we think. This is part of the Loeys-Dietz syndrome. About one-third of adults and about two-thirds of…
