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Persistent Truncus Arteriosus
Persistent truncus arteriosus (PTA), often referred to simply as truncus arteriosus, is a rare form of congenital heart disease that presents at birth. In this condition, the embryological structure known as the truncus arteriosus (embryology), truncus arteriosus fails to properly divide into the pulmonary trunk and aorta. This results in one arterial trunk arising from the heart and providing mixed blood to the coronary arteries, pulmonary arteries, and systemic circulation. For the ICD-11, International Classification of Diseases (ICD-11), the International Paediatric and Congenital Cardiac Code (IPCCC) was developed to standardize the nomenclature of congenital heart disease. Under this system, English is now the official language, and persistent truncus arteriosus should properly be termed common arterial trunk. Causes Most of the time, this defect occurs spontaneously. Genetic disorders and teratogens (viruses, metabolic imbalance, and industrial or pharmacological agents) ha ...
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Congenital Heart Disease
A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. A congenital heart defect is classed as a cardiovascular disease. Signs and symptoms depend on the specific type of defect. Symptoms can vary from none to life-threatening. When present, symptoms may include rapid breathing, bluish skin (cyanosis), poor weight gain, and feeling tired. CHD does not cause chest pain. Most congenital heart defects are not associated with other diseases. A complication of CHD is heart failure. The cause of a congenital heart defect is often unknown. Risk factors include certain infections during pregnancy such as rubella, use of certain medications or drugs such as alcohol or tobacco, parents being closely related, or poor nutritional status or obesity in the mother. Having a parent with a congenital heart defect is also a risk factor. A number of genetic condition ...
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Bone Morphogenetic Protein
Bone morphogenetic proteins (BMPs) are a group of growth factors also known as cytokines and as metabologens. Originally discovered by their ability to induce the formation of bone and cartilage, BMPs are now considered to constitute a group of pivotal morphogenetic signals, orchestrating tissue architecture throughout the body. The important functioning of BMP signals in physiology is emphasized by the multitude of roles for dysregulated BMP signalling in pathological processes. Cancerous disease often involves misregulation of the BMP signalling system. Absence of BMP signalling is, for instance, an important factor in the progression of colon cancer, and conversely, overactivation of BMP signalling following reflux-induced esophagitis provokes Barrett's esophagus and is thus instrumental in the development of esophageal adenocarcinoma. Recombinant human BMPs (rhBMPs) are used in orthopedic applications such as spinal fusions, nonunions, and oral surgery. rhBMP-2 and rhBMP-7 are F ...
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Ventricle (heart)
A ventricle is one of two large chambers toward the bottom of the heart that collect and expel blood towards the peripheral beds within the body and lungs. The blood pumped by a ventricle is supplied by an atrium, an adjacent chamber in the upper heart that is smaller than a ventricle. Interventricular means between the ventricles (for example the interventricular septum), while intraventricular means within one ventricle (for example an intraventricular block). In a four-chambered heart, such as that in humans, there are two ventricles that operate in a double circulatory system: the right ventricle pumps blood into the pulmonary circulation to the lungs, and the left ventricle pumps blood into the systemic circulation through the aorta. Structure Ventricles have thicker walls than atria and generate higher blood pressures. The physiological load on the ventricles requiring pumping of blood throughout the body and lungs is much greater than the pressure generated by the atria ...
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Great Arteries
The great arteries are the primary arteries that carry blood away from the heart, which include: * ''Pulmonary artery'': the vessel that carries oxygen-depleted blood from the right ventricle to the lungs. * ''Aorta'': the blood vessel through which oxygenated blood from the left ventricle enters the systemic circulation. Development The great arteries originate from the aortic arches during embryonic development. The aortic arches start as five pairs of symmetrical vessels connecting the heart with the dorsal aorta but then undergo a significant remodelling, in which some of these vessels regress (aortic arches 1 and 2), the 3rd pair of arches contribute to form the common carotids, the right 4th will contribute to the base and central part of the right subclavian artery, while the left 4th will form the central portion of the aortic arch. The 5th pair of vessels only form in some cases without any known contribution to the final structure of the great arteries. The right 6th ...
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Smooth Muscle
Smooth muscle is an involuntary non-striated muscle, so-called because it has no sarcomeres and therefore no striations (''bands'' or ''stripes''). It is divided into two subgroups, single-unit and multiunit smooth muscle. Within single-unit muscle, the whole bundle or sheet of smooth muscle cells contracts as a syncytium. Smooth muscle is found in the walls of hollow organs, including the stomach, intestines, bladder and uterus; in the walls of passageways, such as blood, and lymph vessels, and in the tracts of the respiratory, urinary, and reproductive systems. In the eyes, the ciliary muscles, a type of smooth muscle, dilate and contract the iris and alter the shape of the lens. In the skin, smooth muscle cells such as those of the arrector pili cause hair to stand erect in response to cold temperature or fear. Structure Gross anatomy Smooth muscle is grouped into two types: single-unit smooth muscle, also known as visceral smooth muscle, and multiunit smooth muscle. ...
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Connexin
Connexins (Cx)TC# 1.A.24, or gap junction proteins, are structurally related transmembrane proteins that assemble to form vertebrate gap junctions. An entirely different family of proteins, the innexins, form gap junctions in invertebrates. Each gap junction is composed of two hemichannels, or connexons, which consist of homo- or heterohexameric arrays of connexins, and the connexon in one plasma membrane docks end-to-end with a connexon in the membrane of a closely opposed cell. The hemichannel is made of six connexin subunits, each of which consist of four transmembrane segments. Gap junctions are essential for many physiological processes, such as the coordinated depolarization of cardiac muscle, proper embryonic development, and the conducted response in microvasculature. Connexins also have non-channel dependant functions relating to cytoskeleton and cell migration. For these reasons, mutations in connexin-encoding genes can lead to functional and developmental abnormalities. ...
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Gap Junction
Gap junctions are specialized intercellular connections between a multitude of animal cell-types. They directly connect the cytoplasm of two cells, which allows various molecules, ions and electrical impulses to directly pass through a regulated gate between cells. One gap junction channel is composed of two protein hexamers (or hemichannels) called connexons in vertebrates and innexons in invertebrates. The hemichannel pair connect across the intercellular space bridging the gap between two cells. Gap junctions are analogous to the plasmodesmata that join plant cells. Gap junctions occur in virtually all tissues of the body, with the exception of adult fully developed skeletal muscle and mobile cell types such as sperm or erythrocytes. Gap junctions are not found in simpler organisms such as sponges and slime molds. A gap junction may also be called a ''nexus'' or ''macula communicans''. While an ephapse has some similarities to a gap junction, by modern definition the two a ...
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Forkhead
FOX (forkhead box) proteins are a family of transcription factors that play important roles in regulating the expression of genes involved in cell growth, proliferation, differentiation, and longevity. Many FOX proteins are important to embryonic development. FOX proteins also have pioneering transcription activity by being able to bind condensed chromatin during cell differentiation processes. The defining feature of FOX proteins is the forkhead box, a sequence of 80 to 100 amino acids forming a motif that binds to DNA. This forkhead motif is also known as the winged helix, due to the butterfly-like appearance of the loops in the protein structure of the domain. Forkhead proteins are a subgroup of the helix-turn-helix class of proteins. Biological roles Many genes encoding FOX proteins have been identified. For example, the FOXF2 gene encodes forkhead box F2, one of many human homologues of the ''Drosophila melanogaster'' transcription factor forkhead. FOXF2 is expressed in t ...
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GATA-6
GATA transcription factors are a family of transcription factors characterized by their ability to bind to the DNA sequence "GATA". GATA transcription factors have been correlated to their broader influence on stem cell development. Findings however, have pointed to a more direct influence by GATA transcription factors, as they are salient components in the more concentrated regulation of gene expression. Data points to the roles GATA transcription factors play in stages past early development in endocrine organs. Despite GATA’s influence on endocrine organs and cell development, they have a complex relation to the development and growth of breast cancer. Its immediate influence is not yet known, its high risk for mutation however, makes determining the immediate influence of paramount importance in battling breast cancer. Genes In humans: * GATA1 (see also ) * GATA2 (see also ) * GATA3 (see also ) * GATA4 (see also ) * GATA5 Transcription factor GATA-5 is a protein that in ...
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Nkx2-5
Homeobox protein Nkx-2.5 is a protein that in humans is encoded by the ''NKX2-5'' gene. Function Homeobox-containing genes play critical roles in regulating tissue-specific gene expression essential for tissue differentiation, as well as determining the temporal and spatial patterns of development (Shiojima et al., 1995). It has been demonstrated that a ''Drosophila'' homeobox-containing gene called 'tinman' is expressed in the developing dorsal vessel and in the equivalent of the vertebrate heart. Mutations in tinman result in loss of heart formation in the embryo, suggesting that tinman is essential for ''Drosophila'' heart formation. Furthermore, abundant expression of Csx, the presumptive mouse homolog of tinman, is observed only in the heart from the time of cardiac differentiation. CSX, the human homolog of murine Csx, has a homeodomain sequence identical to that of Csx and is expressed only in the heart, again suggesting that CSX plays an important role in human heart for ...
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