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Atrioventricular Septal Defect
Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), also known as "common atrioventricular canal" (CAVC) or "endocardial cushion defect" (ECD), is characterized by a deficiency of the atrioventricular septum of the heart that creates connections between all four of its chambers. It is caused by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum. Symptoms and signs Symptoms include difficulty breathing (dyspnea) and bluish discoloration on skin, fingernails, and lips (cyanosis). A newborn baby will show signs of heart failure such as edema, fatigue, wheezing, sweating and irregular heartbeat. Complications Normally, the four chambers of the heart divide oxygenated and de-oxygenated blood into separate pools. When holes form between the chambers, as in AVSD, the pools can mix. Consequently, arterial blood supplies become less oxygena ...
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Endocardial Cushion
Endocardial cushions, or atrioventricular cushions, refer to a subset of cells in the development of the heart that play a vital role in the proper formation of the heart septa. They develop on the atrioventricular canal and conotruncal region of the bulbus cordis. During heart development, the heart starts out as a tube. As heart development continues, this tube undergoes remodeling to eventually form the four-chambered heart. The endocardial cushions are a subset of cells found in the developing heart tube that will give rise to the heart's primitive valves and septa, critical to the proper formation of a four-chambered heart. Development The endocardial cushions are thought to arise from a subset of endothelial cells that undergo epithelial-mesenchymal transition, a process whereby these cells break cell-to-cell contacts and migrate into the cardiac jelly (towards the interior of the heart tube). These migrated cells form the "swellings" called the endocardial cushions seen in ...
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DiGeorge Syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease. DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as ''22q11.2''. About 90% of cases occur due to a new mutation during early development, while 10% are inherited from a person's parents. It is autosomal dominant, meaning that only one affected chromosome is needed for the condition to occur. Diagnosis is suspected based on the symptoms and confirmed by genetic testing. Although there is no cure, treatment can improve symptoms. This often includes a m ...
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Atrial Septal Defect
Atrial septal defect (ASD) is a congenital heart defect in which blood flows between the atria (upper chambers) of the heart. Some flow is a normal condition both pre-birth and immediately post-birth via the foramen ovale; however, when this does not naturally close after birth it is referred to as a patent (open) foramen ovale (PFO). It is common in patients with a congenital atrial septal aneurysm (ASA). After PFO closure the atria normally are separated by a dividing wall, the interatrial septum. If this septum is defective or absent, then oxygen-rich blood can flow directly from the left side of the heart to mix with the oxygen-poor blood in the right side of the heart; or the opposite, depending on whether the left or right atrium has the higher blood pressure. In the absence of other heart defects, the left atrium has the higher pressure. This can lead to lower-than-normal oxygen levels in the arterial blood that supplies the brain, organs, and tissues. However, an ASD m ...
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Obstetric Ultrasonography
Obstetric ultrasonography, or prenatal ultrasound, is the use of medical ultrasonography in pregnancy, in which sound waves are used to create real-time visual images of the developing embryo or fetus in the uterus (womb). The procedure is a standard part of prenatal care in many countries, as it can provide a variety of information about the health of the mother, the timing and progress of the pregnancy, and the health and development of the embryo or fetus. The International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) recommends that pregnant women have routine obstetric ultrasounds between 18 weeks' and 22 weeks' gestational age (the anatomy scan) in order to confirm pregnancy dating, to measure the fetus so that growth abnormalities can be recognized quickly later in pregnancy, and to assess for congenital malformations and multiple pregnancies (twins, etc). Additionally, the ISUOG recommends that pregnant patients who desire genetic testing have obstetric ultra ...
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Cardiac Catheterization
Cardiac catheterization (heart cath) is the insertion of a catheter into a chamber or vessel of the heart. This is done both for diagnostic and interventional purposes. A common example of cardiac catheterization is coronary catheterization that involves catheterization of the coronary arteries for coronary artery disease and myocardial infarctions ("heart attacks"). Catheterization is most often performed in special laboratories with fluoroscopy and highly maneuverable tables. These "cath labs" are often equipped with cabinets of catheters, stents, balloons, etc. of various sizes to increase efficiency. Monitors show the fluoroscopy imaging, electrocardiogram (ECG), pressure waves, and more. Uses Coronary angiography is a diagnostic procedure that allows visualization of the coronary vessels. Fluoroscopy is used to visualize the lumens of the arteries as a 2-D projection. Should these arteries show narrowing or blockage, then techniques exist to open these arteries. Percutane ...
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Echocardiography
An echocardiography, echocardiogram, cardiac echo or simply an echo, is an ultrasound of the heart. It is a type of medical imaging of the heart, using standard ultrasound or Doppler ultrasound. Echocardiography has become routinely used in the diagnosis, management, and follow-up of patients with any suspected or known heart diseases. It is one of the most widely used diagnostic imaging modalities in cardiology. It can provide a wealth of helpful information, including the size and shape of the heart (internal chamber size quantification), pumping capacity, location and extent of any tissue damage, and assessment of valves. An echocardiogram can also give physicians other estimates of heart function, such as a calculation of the cardiac output, ejection fraction, and diastolic function (how well the heart relaxes). Echocardiography is an important tool in assessing wall motion abnormality in patients with suspected cardiac disease. It is a tool which helps in reaching an ear ...
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Medical Ultrasonography
Medical ultrasound includes diagnostic techniques (mainly medical imaging, imaging techniques) using ultrasound, as well as therapeutic ultrasound, therapeutic applications of ultrasound. In diagnosis, it is used to create an image of internal body structures such as tendons, muscles, joints, blood vessels, and internal organs, to measure some characteristics (e.g. distances and velocities) or to generate an informative audible sound. Its aim is usually to find a source of disease or to exclude pathology. The usage of ultrasound to produce visual images for medicine is called medical ultrasonography or simply sonography. The practice of examining pregnant women using ultrasound is called obstetric ultrasonography, and was an early development of clinical ultrasonography. Ultrasound is composed of sound waves with frequency, frequencies which are significantly higher than the range of human hearing (>20,000 Hz). Ultrasonic images, also known as sonograms, are created by se ...
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Auscultation
Auscultation (based on the Latin verb ''auscultare'' "to listen") is listening to the internal sounds of the body, usually using a stethoscope. Auscultation is performed for the purposes of examining the circulatory and respiratory systems (heart and breath sounds), as well as the alimentary canal. The term was introduced by René Laennec. The act of listening to body sounds for diagnostic purposes has its origin further back in history, possibly as early as Ancient Egypt. (Auscultation and palpation go together in physical examination and are alike in that both have ancient roots, both require skill, and both are still important today.) Laënnec's contributions were refining the procedure, linking sounds with specific pathological changes in the chest, and inventing a suitable instrument (the stethoscope) to mediate between the patient's body and the clinician's ear. Auscultation is a skill that requires substantial clinical experience, a fine stethoscope and good listening s ...
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Syndrome
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ...
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Cell Signaling
In biology, cell signaling (cell signalling in British English) or cell communication is the ability of a cell to receive, process, and transmit signals with its environment and with itself. Cell signaling is a fundamental property of all cellular life in prokaryotes and eukaryotes. Signals that originate from outside a cell (or extracellular signals) can be physical agents like mechanical pressure, voltage, temperature, light, or chemical signals (e.g., small molecules, peptides, or gas). Cell signaling can occur over short or long distances, and as a result can be classified as autocrine, juxtacrine, intracrine, paracrine, or endocrine. Signaling molecules can be synthesized from various biosynthetic pathways and released through passive or active transports, or even from cell damage. Receptors play a key role in cell signaling as they are able to detect chemical signals or physical stimuli. Receptors are generally proteins located on the cell surface or within the interio ...
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Cilium
The cilium, plural cilia (), is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike projection that extends from the surface of the much larger cell body. Eukaryotic flagella found on sperm cells and many protozoans have a similar structure to motile cilia that enables swimming through liquids; they are longer than cilia and have a different undulating motion. There are two major classes of cilia: ''motile'' and ''non-motile'' cilia, each with a subtype, giving four types in all. A cell will typically have one primary cilium or many motile cilia. The structure of the cilium core called the axoneme determines the cilium class. Most motile cilia have a central pair of single microtubules surrounded by nine pairs of double microtubules called a 9+2 axoneme. Most non-motile cilia have a 9+0 axoneme that lacks the central pair o ...
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