Entries from 2022-05-01 to 1 month
はじめに 執刀医にどのような質問をしましたか? 手術に向けてどのような準備をしましたか? 手術前の検査などについて教えてください -大動脈人工弁の種類はどのように決めましたか? 手術や手術からの回復期について事前に知っておきたかったことはどのよ…
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…
医療者 心血管系(心臓および循環器系) 心臓欠陥 頭蓋顔面(頭部および顔面) 遺伝学 薬 神経系 骨格系 皮膚 画像検査 医療者 .tg {border-collapse:collapse;border-spacing:0;} .tg td{border-color:black;border-style:solid;border-width:1px;font-fami…
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…