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関連する概念動画

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

454
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
454
ATP Yield01:31

ATP Yield

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Cellular respiration produces 30 - 32 ATP per glucose molecule. Although most of the ATP results from oxidative phosphorylation and the electron transport chain (ETC), 4 ATP are gained beforehand (2 from glycolysis and 2 from the citric acid cycle).
The ETC is embedded in the inner mitochondrial membrane and is comprised of four main protein complexes and an ATP synthase. NADH and FADH2 pass electrons to these complexes, which pump protons into the intermembrane space. This distribution of...
78.4K
One-Degree-of-Freedom System01:24

One-Degree-of-Freedom System

838
In mechanical engineering, one-degree-of-freedom systems form the basis of a wide range of electrical and mechanical components. Using these models, engineers can predict the behavior of various parts in a larger system, which gives them insight into how different forces interact with each other.
A one-degree-of-freedom system is defined by an independent variable that determines its state and behavior. One example of a one-degree-of-freedom system is a simple harmonic oscillator, such as a...
838
Degrees of Freedom01:02

Degrees of Freedom

6.8K
The degree of freedom for a particular statistical calculation is the number of values that are free to vary. Thus, the minimum number of independent numbers can specify a particular statistic. The degrees of freedom differ greatly depending on known and uncalculated statistical components.
For example, suppose there are three unknown numbers whose mean is 10; although we can freely assign values to the first and second numbers, the value of the last number can not be arbitrarily assigned.
6.8K
Degrees of Freedom01:02

Degrees of Freedom

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The degree of freedom for a particular statistical calculation is the number of values that are free to vary. As a result, the minimum number of independent numbers can specify a particular statistic. The degrees of freedom differ greatly depending on known and uncalculated statistical components.
For example, suppose there are three unknown numbers whose mean is 10; although we can freely assign values to the first and second numbers, the value of the last number can not be arbitrarily...
9.4K
Degree of Unsaturation02:05

Degree of Unsaturation

10.5K
The degree of unsaturation (U), or index of hydrogen deficiency (IHD), is defined as the difference in the number of pairs of hydrogen atoms between the compound and the acyclic alkane with the same number of carbon atoms. Each double bond or ring costs two hydrogen atoms compared to a saturated analog and results in one degree of unsaturation.
The degree of unsaturation for hydrocarbons is U = (2C + 2 − H) / 2, where C is the number of carbon atoms and H is the number of hydrogen atoms.
10.5K

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関連する実験動画

Updated: Jan 26, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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子供の初級親戚における高縮性心筋症の臨床スクリーニングの効果

Gabrielle Norrish1,2, Joanna Jager1,2, Ella Field1

  • 1Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London UK (G.N., J.J., E.F., H.F., E.L., E.C., J.P.K.).

Circulation
|April 23, 2019
PubMed
まとめ
この要約は機械生成です。

ハイパルトロフィック心筋病 (HCM) のスクリーニングを受けた子供のほぼ5%は,しばしば青春期前に診断されます. これは,家族性HCMの早期の臨床スクリーニングが有益であることを示唆しています.

キーワード:
心筋病子供突然の死遺伝学マススクリーニング

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Assessing the Coherence of Parents' Short Narratives Regarding their Child Using the Five-Minute Speech Sample Procedure
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関連する実験動画

Last Updated: Jan 26, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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科学分野:

  • 心臓病科
  • 遺伝学
  • 小児科

背景:

  • ハイパルトロフィック心筋病 (HCM) は遺伝性心筋疾患である.
  • 現在のガイドラインでは 10歳からの親戚のスクリーニングが推奨されています.
  • この年齢に基づくスクリーニングの臨床的価値は十分に確立されていません.

研究 の 目的:

  • 子供における家族性HCMの現在のスクリーニング推奨の臨床的有用性を評価する.
  • 小児の親族におけるHCMの発症年齢と発現を決定する.

主な方法:

  • HCMをスクリーニングした子供の匿名化された臨床データの遡及分析.
  • 入会基準:HCMと診断された一級親族の子供 (≤18歳).
  • 1994年から2017年の間に実施された 連続評価

主要な成果:

  • 1198人の子供のうち32人 (2. 7%) が初期に診断され,25人がフォローアップ中にHCMを発症した.
  • 診断時の平均年齢は10歳であり,ほとんどの患者は12歳未満でした.
  • 検診を受けた一級親戚の子供の5%がHCMの基準を満たし,その多くは青春期前でした.

結論:

  • HCMの診断は,小児の親戚で,しばしば10歳前に起こります.
  • 幼少期のHCMの多様で時には重症な表型は,早期のスクリーニングをサポートします.
  • 現行のスクリーニングガイドラインは,小児を含むように修正する必要があるかもしれません.