Entries from 2022-04-01 to 1 month
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) 42:38-46:43 So just curious Dr. Dietz, your thoughts on like who makes a good candidate for moving forward with whole exome or what kind of family like if …
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) 31:27-33:00 So there was one last question about what's new in terms of genetic aortopathies and I was just gonna touch briefly on one kind of syndromic ne…
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…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 16:57-18:44 So whenever we do a genetic test there can be three answers that we get: it could be clearly negative so sometimes variants are found that are …
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 15:50-16:56 So in addition to panel testing for aortopathy some people get, come to a genetic diagnosis because they have a testing technology available th…
What’s in Your LDS Family Tree? Genetics, Variability, Outcomes (September 1, 2020) 12:53-15:48 My name is Gretchen MacCarrick. I'm a genetic counselor at Johns Hopkins. I've been with their connective tissue aortopathy group for about 19 …
Marfan Syndrome Management: Back to Basic 56:44-59:14 How common are is, how common is it for a pediatric patient to require aortic surgery and what does the measurement and should people worry about that? Eileen:お子さんが大動脈手術を受け…
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・…
Marfan Syndrome Management: Back to Basic 54:40-56:43 Can we go back to the abdominal aortic aneurysm for a second? How does that affect pregnancy, what would be your recommendation for that if somebody has an aortic aneurysm, an abdominal…
