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Familial Amyloid Cardiomyopathy
Familial amyloid cardiomyopathy (FAC), or transthyretin amyloid cardiomyopathy (ATTR-CM) results from the aggregation and deposition of mutant and wild-type transthyretin (TTR) protein in the heart. TTR is usually circulated as a homo-tetramer—a protein made up of four identical subunits—however, in FAC populations, TTR dissociates from this typical form and misassembles into amyloid fibrils which are insoluble and resistant to degradation. Due to this resistance to degradation, when amyloid fibrils accumulate in the heart's walls, specifically the left ventricle, rigidity prevents the heart from properly relaxing and refilling with blood: this is called diastolic dysfunction which can ultimately lead to heart failure. Types There are two types of ATTR-CM: Hereditary (hATTR-CM) and wild type (wATTR-CM). Both mutant and wild-type transthyretin comprise the aggregates because the TTR blood protein is a tetramer composed of mutant and wild-type TTR subunits in heterozygotes. Sev ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wild-type
The wild type (WT) is the phenotype of the typical form of a species as it occurs in nature. Originally, the wild type was conceptualized as a product of the standard "normal" allele at a locus, in contrast to that produced by a non-standard, " mutant" allele. "Mutant" alleles can vary to a great extent, and even become the wild type if a genetic shift occurs within the population. Continued advancements in genetic mapping technologies have created a better understanding of how mutations occur and interact with other genes to alter phenotype. It is now regarded that most or all gene loci exist in a variety of allelic forms, which vary in frequency throughout the geographic range of a species, and that a uniform wild type does not exist. In general, however, the most prevalent allele – i.e., the one with the highest gene frequency – is the one deemed wild type. The concept of wild type is useful in some experimental organisms such as fruit flies ''Drosophila melanogaster'', ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Echocardiograph
Echocardiography, also known as cardiac ultrasound, is the use of ultrasound to examine the heart. It is a type of medical imaging, using standard ultrasound or Doppler ultrasound. The visual image formed using this technique is called an echocardiogram, a cardiac echo, or simply an echo. Echocardiography is 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transthyretin
Transthyretin (TTR or TBPA) is a transport protein in the plasma and cerebrospinal fluid that transports the thyroid hormone thyroxine (T4) and retinol to the liver. This is how transthyretin gained its name: ''transports thyroxine and retinol''. The liver secretes TTR into the blood, and the choroid plexus secretes TTR into the cerebrospinal fluid. TTR was originally called prealbumin (or thyroxine-binding prealbumin) because it migrated faster than albumin on electrophoresis gels. Prealbumin was felt to be a misleading name, it is not a synthetic precursor of albumin. The alternative name TTR was proposed by DeWitt Goodman in 1981. Human transthyretrin protein is encoded by the ''TTR'' gene, which is located on the long arm of chromosome 18, in cytogenetic band 18q12.1. Binding affinities It functions in concert with two other thyroid hormone-binding proteins in the serum: In cerebrospinal fluid TTR is the primary carrier of T4. TTR also acts as a carrier of retinol ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyloid
Amyloids are aggregates of proteins characterised by a fibrillar morphology of typically 7–13 nm in diameter, a β-sheet secondary structure (known as cross-β) and ability to be stained by particular dyes, such as Congo red. In the human body, amyloids have been linked to the development of various diseases. Pathogenic amyloids form when previously healthy proteins lose their normal structure and physiological functions ( misfolding) and form fibrous deposits within and around cells. These protein misfolding and deposition processes disrupt the healthy function of tissues and organs. Such amyloids have been associated with (but not necessarily as the cause of) more than 50 human diseases, known as amyloidosis, and may play a role in some neurodegenerative diseases. Some of these diseases are mainly sporadic and only a few cases are familial. Others are only familial. Some result from medical treatment. Prions are an infectious form of amyloids that can act as a templa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heart Arrhythmia
Arrhythmias, also known as cardiac arrhythmias, are irregularities in the cardiac cycle, heartbeat, including when it is too fast or too slow. Essentially, this is anything but normal sinus rhythm. A resting heart rate that is too fast – above 100 beats per minute in adults – is called tachycardia, and a resting heart rate that is too slow – below 60 beats per minute – is called bradycardia. Some types of arrhythmias have no symptoms. Symptoms, when present, may include palpitations or feeling a pause between heartbeats. In more serious cases, there may be presyncope, lightheadedness, Syncope (medicine), passing out, shortness of breath, chest pain, or decreased level of consciousness. While most cases of arrhythmia are not serious, some predispose a person to complications such as stroke or heart failure. Others may result in cardiac arrest, sudden death. Arrhythmias are often categorized into four groups: premature heart beat, extra beats, supraventricular tachycard ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pacemaker
A pacemaker, also known as an artificial cardiac pacemaker, is an implanted medical device that generates electrical pulses delivered by electrodes to one or more of the chambers of the heart. Each pulse causes the targeted chamber(s) to contract and pump blood, thus regulating the function of the electrical conduction system of the heart. The primary purpose of a pacemaker is to maintain an even heart rate, either because the heart's natural cardiac pacemaker provides an inadequate or irregular heartbeat, or because there is a block in the heart's electrical conduction system. Modern pacemakers are externally programmable and allow a cardiologist to select the optimal pacing modes for individual patients. Most pacemakers are on demand, in which the stimulation of the heart is based on the dynamic demand of the circulatory system. Others send out a fixed rate of impulses. A specific type of pacemaker, called an implantable cardioverter-defibrillator, combines pacemaker and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diuretic
A diuretic () is any substance that promotes diuresis, the increased production of urine. This includes forced diuresis. A diuretic tablet is sometimes colloquially called a water tablet. There are several categories of diuretics. All diuretics increase the excretion of water from the body, through the kidneys. There exist several classes of diuretic, and each works in a distinct way. Alternatively, an antidiuretic, such as vasopressin ( antidiuretic hormone), is an agent or drug which reduces the excretion of water in urine. Medical uses In medicine, diuretics are used to treat heart failure, liver cirrhosis, hypertension, influenza, water poisoning, and certain kidney diseases. Some diuretics, such as acetazolamide, help to make the urine more alkaline, and are helpful in increasing excretion of substances such as aspirin in cases of overdose or poisoning. Diuretics are sometimes abused by people with an eating disorder, especially people with bulimia nervosa, with the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Clinical Trial
Clinical trials are prospective biomedical or behavioral research studies on human subject research, human participants designed to answer specific questions about biomedical or behavioral interventions, including new treatments (such as novel vaccines, pharmaceutical drug, drugs, medical nutrition therapy, dietary choices, dietary supplements, and medical devices) and known interventions that warrant further study and comparison. Clinical trials generate data on dosage, safety and efficacy. They are conducted only after they have received institutional review board, health authority/ethics committee approval in the country where approval of the therapy is sought. These authorities are responsible for vetting the risk/benefit ratio of the trial—their approval does not mean the therapy is 'safe' or effective, only that the trial may be conducted. Depending on product type and development stage, investigators initially enroll volunteers or patients into small Pilot experiment, pi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Atrial Fibrillation
Atrial fibrillation (AF, AFib or A-fib) is an Heart arrhythmia, abnormal heart rhythm (arrhythmia) characterized by fibrillation, rapid and irregular beating of the Atrium (heart), atrial chambers of the heart. It often begins as short periods of abnormal cardiac cycle, beating, which become longer or continuous over time. It may also start as other forms of arrhythmia such as atrial flutter that then transform into AF. Episodes can be asymptomatic. Symptomatic episodes may involve heart palpitations, syncope (medicine), fainting, Presyncope, lightheadedness, Unconsciousness, loss of consciousness, or shortness of breath. Atrial fibrillation is associated with an increased risk of heart failure, dementia, and stroke. It is a type of supraventricular tachycardia. Atrial fibrillation frequently results from bursts of tachycardia that originate in muscle bundles extending from the Atrium (heart), atrium to the pulmonary veins. Pulmonary vein isolation by catheter ablation, trans ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AV Block
AV, Av or A.V. may refer to: Arts and entertainment * The abbreviation of audiovisual, possessing both a sound and a visual component * ''A.V.'' (film), a 2005 Hong Kong film directed by Pang Ho-Cheung * Adult video, an alternative name/synonym of a pornographic film * ''AV The Hunt'', a 2020 Turkish thriller film directed by Emre Akay Businesses and organizations * America Votes, an American 501(c)4 organization that promotes progressive causes * Ambulance Victoria, an ambulance service operated in the Australian state of Victoria * Anonymous for the Voiceless, a grassroots animal rights organization specializing in street activism * Aston Villa F.C., an English professional football club * AV Akademikerverlag GmbH & Co. KG an imprint of the German group VDM Publishing (''now'' OmniScriptum) * Avaya, a technology company formerly listed on the New York Stock Exchange with symbol "AV" * Avianca (IATA airline code AV) * Aviva, British insurance company, listed on the New York Sto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bundle Branch Block
A bundle branch block is a partial or complete interruption in the flow of electrical impulses in either of the bundle branches of the heart's electrical system. Anatomy and physiology The heart's electrical activity begins in the sinoatrial node (the heart's natural pacemaker), which is situated on the upper right atrium. The impulse travels next through the left and right atria and summates at the atrioventricular node. From the AV node the electrical impulse travels down the bundle of His and divides into the right and left bundle branches. The right bundle branch contains one fascicle. The left bundle branch subdivides into two fascicles: the left anterior fascicle, and the left posterior fascicle. Other sources divide the left bundle branch into three fascicles: the left anterior, the left posterior, and the left septal fascicle. The thicker left posterior fascicle bifurcates, with one fascicle being in the septal aspect. Ultimately, the fascicles divide into mill ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ejection Fraction
An ejection fraction (EF) is the volumetric fraction (or portion of the total) of fluid (usually blood) ejected from a chamber (usually the heart) with each contraction (or heartbeat). It can refer to the cardiac atrium, cardiac ventricle, gall bladder, or leg veins, although if unspecified it usually refers to the left ventricle of the heart. EF is widely used as a measure of the pumping efficiency of the heart and is used to classify heart failure types. It is also used as an indicator of the severity of heart failure, although it has recognized limitations. The EF of the left heart, known as the left ventricular ejection fraction (LVEF), is calculated by dividing the volume of blood pumped from the left ventricle per beat ( stroke volume) by the volume of blood present in the left ventricle at the end of diastolic filling ( end-diastolic volume). LVEF is an indicator of the effectiveness of pumping into the systemic circulation. The EF of the right heart, or right ventricul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
