ロイス・ディーツ症候群（LDS）
はじめに 頭部から頚部にかけての動脈系 胸部・腹部・下肢の動脈系 はじめに 瘤や解離、蛇行は大動脈や動脈系でみられます。本文書は血管系を理解する上での解剖学上の手引書となっています。 頭部から頚部にかけての動脈系 .tg {border-collapse:collapse;b…
ロイス・ディーツ症候群かどうかを確認するには 他の結合組織疾患との比較でロイス・ディーツ症候群に多くみられる特徴を挙げる 大動脈や動脈などを画像検査で調べる 医師のところにリストを持っていく 医師に検査を依頼する ロイス・ディーツ症候群かどうか…
はじめに 学校提出用文書のサンプル 緊急連絡情報（ロイス・ディーツ症候群生徒向け） ロイス・ディーツ症候群についての一般情報 患者情報（ロイス・ディーツ症候群生徒向け） 学校での配慮（ロイス・ディーツ症候群生徒向け） -体育・スポーツ -授業・教室…
COVID-19 Q & A (April 2022) はじめに BA.2 変異株について BA.2 変異株の影響 ワクチンについて ワクチンの追加接種について 小児のワクチン接種について 小児のワクチン接種に関する研究からわかること マルファン関連疾患に対するCOVID-19の影響 はじめ…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:06:12-1:12:10 So last question because we're running up on time and this is actually a question I've been struggling with as well. Knowing that testing p…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 1:01:49-1:06:09 So someone is asking your thoughts again on the variability within one type of Loeys-Dietz-like syndrome if you think it's more likely to b…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 58:16-1:01:46 So say that there is someone who has an aortic root or ascending aneurysm, there's no known family history, their genetic testing has thus fa…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 56:57-58:04 What type, this is kind of a clinical question, but we'll take a detour. Is there any specific type of eye muscle disorder present in LDS, spec…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 52:30-55:52 Can the mutation happen anytime in life or is it from birth only? I have a son with LDS2 and a healthy older daughter. My son is de novo so the…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 46:47-52:27 This is a tough one. I'm trying to figure out. I don't think it's answerable but what are, what are statistical chances for VUS within TGFBR1 g…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 48:25-49:46 For, families that have like multiple generations of Loeys-Dietz syndrome, someone is asking a question that in the third generation it appears…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 46:47-48:22 Can a parent with one type of Loeys-Dietz syndrome, perhaps type four, pass down a different type of LDS to their kids? MacCarrick: 親のLDS型と…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 39:36-42:15 Can siblings be very different in their LDS journey and does being male or female make a marked difference? This person has one person, a male …
はじめに きょうだいがロイス・ディーツ症候群と診断された皆さんへ ロイス・ディーツ症候群と診断されたお子さんの親御さんへ はじめに 2016年の The Loeys-Dietz Syndrome Foundation の総会では、自分のきょうだいがロイス・ディーツ症候群の子ども達が、…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 38:00-39:34 Is there a way to find out if a family member that has already passed had the gene? We've had some family members that have had similar health …
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 34:01-37:57 Should relatives who show characteristics of Loeys-Dietz syndrome including aortic dilation yet don't test positive for the family's identified…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 29:59-31:25 In our cohort just a word on two specific variants that we've seen that present with very aggressive childhood disease. 我々が研究対象としてい…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 28:47-29:58 In terms of variability of allergic and GI disease, this has been observed in types 1 and 2 Loeys-Dietz syndrome. It's really an unknown right …
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 27:42-28:46 You know, some other places where you have noticed some variability that has helped us to kind of figure out different guidelines to take care …
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 24:51-27:41 So I just thought I'd put up some slides that go through the patients in the initial publications for Loeys-Dietz syndrome, so you can see how …
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 21:20-24:50 So in terms of variability we do know that there are variable systemic manifestations that are suggestive of Loeys-Dietz syndrome. Things that …
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 19:35-21:18 So in terms of Loeys-Dietz syndrome you might all be familiar with the TGF-beta signaling pathway. This is the pathway where Loeys-Dietz gene d…
はじめに なぜ骨の健康が重要か？ ロイス・ディーツ症候群における骨に関するリスク因子 DEXA法（骨密度検査） 食事と運動による骨の管理 丈夫な骨を保つためのアドバイス はじめに ロイス・ディーツ症候群（LDS）の患者さんの中には、骨がもろいことにより…
ロイス・ディーツ症候群とは ロイス・ディーツ症候群の原因 ロイス・ディーツ症候群の発症 ロイス・ディーツ症候群の特徴 ロイス・ディーツ症候群の診断 ロイス・ディーツ症候群とは ロイス・ディーツ症候群（LDS）は遺伝性の結合組織疾患であり、2005年に命…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 18:48-19:24 So Loeys-Dietz syndrome is an autosomal dominant condition, which means that any person that has a gene change in one of Loeys-Dietz genes each…
はじめに ロイス・ディーツ症候群で多くみられる消化器疾患 ・食物アレルギー ・好酸球性消化器疾患（好酸球性食道炎/胃腸炎/大腸炎） ・炎症性腸疾患（IBD） ・便秘 消化器疾患の診断法 ・臨床検査 ・内視鏡検査 ・レントゲン・CT・MRI 消化器疾患の管理・…
はじめに LDS患者に多いアレルギー症状 ・食物アレルギー ・皮膚炎 ・副鼻腔疾患 ・環境アレルギー ・喘息 ・中耳炎 アレルギーの治療法・管理法 ・食物アレルギー ・皮膚炎 ・副鼻腔疾患および季節性・環境アレルギー ・喘息 ・中耳炎 はじめに Loeys-Dietz…
Living with Risk 18:04-19:25 And I would say that the exact disease and the exact diagnosis matter tremendously so there are certainly some conditions that we know are going to be higher risk. 正確な診断がつくということは非常に大事なことで…
Children with Marfan, Loeys-Dietz, and VEDS: More than Medicine 56:52-1:00:18 What is the most important thing to consider when raising children with Marfan or Loeys-Dietz or vEDS? Marfan症候群やLoeys-Dietzs症候群、血管型Ehlers-Danlos症候…
Children with Marfan, Loeys-Dietz, and VEDS: More than Medicine 17:55-19:24 Well, what about vEDS and LDS? You know, of course, this is a condition, these conditions are much less prevalent than Marfans, I think it's probably 25 to 50 perc…
