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相关概念视频

Calmodulin-dependent Signaling01:16

Calmodulin-dependent Signaling

5.3K
Calmodulin (CaM) is a calcium-binding protein in eukaryotes that controls various calcium-regulated cellular processes. It has four calcium-binding sites that bind calcium to form the calcium-calmodulin ( Ca2+-CaM) complex. GPCR stimulation increases the calcium levels in the cells that bind to CaM and induces a conformational change.
The Ca2+-CaM complex does not have enzymatic activity by itself. Instead, the complex binds downstream target proteins, including membrane proteins or enzymes,...
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Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

57
The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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Rheumatic Heart Disease III: Medical Management01:21

Rheumatic Heart Disease III: Medical Management

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Rheumatic heart disease (RHD) management can be divided into two main strategies: prevention and long-term management.Primary PreventionPrimary prevention focuses on timely diagnosis and management of group A streptococcal pharyngitis to prevent acute rheumatic fever. The most widely used antibiotic for treating this condition is intramuscular benzathine penicillin G.Acute Rheumatic Fever TreatmentThe primary treatment goal for a patient diagnosed with acute rheumatic fever is to suppress the...
31
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

38
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
38
cAMP-dependent Protein Kinase Pathways01:25

cAMP-dependent Protein Kinase Pathways

6.6K
Cyclic Adenosine Monophosphate (cAMP) is an essential second messenger that activates protein kinase A (PKA) and regulates various biological processes. A single epinephrine molecule binds to GPCR and activates several heterotrimeric G proteins, each stimulating multiple adenylyl cyclase, amplifying the signal, and synthesizing large numbers of cAMP molecules. Small changes in cAMP concentration affect PKA activity. The binding of four cAMP molecules induces a conformational change in PKA,...
6.6K
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

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Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
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卡尔莫杜林病:需要一个注册表

Peter J Schwartz1, Lia Crotti2

  • 1Istituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milano, Italy.

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概括

卡尔莫杜林病是一种罕见的遗传疾病,与心脏突然死亡有关. 为了了解疾病机制和改善患者管理,将患者注册在国际素病症登记处至关重要.

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科学领域:

  • 心脏病学
  • 遗传学
  • 分子生物学

背景情况:

  • 卡尔莫杜林病是一种罕见的遗传性疾病,具有高风险的突然心脏死亡.
  • 在CALM基因中引起疾病的变异导致严重的长QT综合征,多态心室心跳动和异常心室动.
  • 目前的知识依赖于国际蛋白病学注册局 (ICamR) 的有限数据,阻碍了进展.

研究的目的:

  • 为了解决ICamR中的缓慢患者积累.
  • 呼吁全球医生参与患者招募,包括孤立的病例.
  • 收集足够的数据以进行全面的基因型-表型相关性和改进风险分层.

主要方法:

  • 呼吁全世界的医生为ICamR提供患者数据.
  • 充分利用先前针对长QT综合征的研究成果.
  • 建立罕见心脏遗传疾病的协作注册.

主要成果:

  • 目前ICamR的患者积累不足以进行可靠的科学调查.
  • 在了解全临床谱和基因型与表型相关性方面存在重大差距.
  • 改善数据收集对于进一步管理原蛋白病症至关重要.

结论:

  • 迫切需要增加ICamR的患者.
  • 综合数据对于定义疾病表现和指导治疗策略至关重要.
  • 全球合作是促进罕见心脏通道病症研究的关键.