The Many Facets of Hypermobile Ehlers-Danlos Syndrome

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Cardiomyopathy III: Hypertrophic Cardiomyopathy

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...
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Extracellular Matrix01:26

Extracellular Matrix

Unlike epithelial tissue, which is composed of cells closely packed with little or no extracellular space in between, connective tissue cells are dispersed in a matrix. This extracellular matrix (ECM) is composed of fibrous proteins like collagen, elastin, and fibronectin in a ground substance consisting of interstitial fluid, cell adhesion proteins, and proteoglycans. The proteoglycans form a gel-like material in the spaces between cells and provide hydration, buffering, binding, and force...
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Generalized Hooke's Law

The generalized Hooke's Law is a broadened version of Hooke's Law, which extends to all types of stress and in every direction. Consider an isotropic material shaped into a cube subjected to multiaxial loading. In this scenario, normal stresses are exerted along the three coordinate axes. As a result of these stresses, the cubic shape deforms into a rectangular parallelepiped. Despite this deformation, the new shape maintains equal sides, and there is a normal strain in the direction of the...
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The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein...
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Fascia, a thin layer of fibrous connective tissue, is distributed throughout the body. It demarcates and forms a supportive covering over skeletal muscles, bones, blood vessels, and organs. There are three main types of facia— superficial fascia, deep fascia, and subserous fascia. These are all present at different depths in the body. Fascia reduces the friction and permits muscles, joints, and organs to easily slide against each other, facilitating movement of the body and preventing...
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Eccentric axial loading occurs when an axial load is applied away from the centroidal axis of a structural member. This scenario is common in engineering, where structural elements may not be directly aligned due to various design or functional requirements.
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