Black Urine Disease
Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the ''HGD'' gene for the enzyme homogentisate 1,2-dioxygenase (); if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues. Homogentisic acid and its oxidized form ''alkapton'' are excreted in the urine, giving it an unusually dark color. The accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to osteoarthritis) and heart valves, as well as precipitating as kidney stones and stones in other organs. Symptoms usually develop in people over 30 years old, although the dark discoloration of the urine is present from birth. Apart from treatment of the complications (such as pain relief and joint replacement for the cartilage damage), the drug nitisinone has been found to suppress homogentisic acid production, and research is ongoing as to whether it can i ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Dominican Republic
The Dominican Republic ( ; es, República Dominicana, ) is a country located on the island of Hispaniola in the Greater Antilles archipelago of the Caribbean region. It occupies the eastern five-eighths of the island, which it shares with Haiti, making Hispaniola one of only two Caribbean islands, along with Saint Martin, that is shared by two sovereign states. The Dominican Republic is the second-largest nation in the Antilles by area (after Cuba) at , and third-largest by population, with approximately 10.7 million people (2022 est.), down from 10.8 million in 2020, of whom approximately 3.3 million live in the metropolitan area of Santo Domingo, the capital city. The official language of the country is Spanish. The native Taíno people had inhabited Hispaniola before the arrival of Europeans, dividing it into five chiefdoms. They had constructed an advanced farming and hunting society, and were in the process of becoming an organized civilization. The Taínos also in ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Gallstone
A gallstone is a calculus (medicine), stone formed within the gallbladder from precipitated bile components. The term cholelithiasis may refer to the presence of gallstones or to any disease caused by gallstones, and choledocholithiasis refers to the presence of migrated gallstones within bile ducts. Most people with gallstones (about 80%) are asymptomatic. However, when a gallstone obstructs the bile duct and causes acute cholestasis, a reflexive smooth muscle spasm often occurs, resulting in an intense cramp-like visceral pain in the quadrant (abdomen), right upper part of the abdomen known as a biliary colic (or "gallbladder attack"). This happens in 1–4% of those with gallstones each year. Complications from gallstones may include inflammation of the gallbladder (cholecystitis), inflammation of the pancreas (pancreatitis), Jaundice#Post-hepatic, obstructive jaundice, and infection in bile ducts (ascending cholangitis, cholangitis). Symptoms of these complications may include ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Heart Failure
Heart failure (HF), also known as congestive heart failure (CHF), is a syndrome, a group of signs and symptoms caused by an impairment of the heart's blood pumping function. Symptoms typically include shortness of breath, excessive fatigue, and leg swelling. The shortness of breath may occur with exertion or while lying down, and may wake people up during the night. Chest pain, including angina, is not usually caused by heart failure, but may occur if the heart failure was caused by a heart attack. The severity of the heart failure is measured by the severity of symptoms during exercise. Other conditions that may have symptoms similar to heart failure include obesity, kidney failure, liver disease, anemia, and thyroid disease. Common causes of heart failure include coronary artery disease, heart attack, high blood pressure, atrial fibrillation, valvular heart disease, excessive alcohol consumption, infection, and cardiomyopathy. These cause heart failure by altering ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Cardiac Arrhythmia
Arrhythmias, also known as cardiac arrhythmias, heart arrhythmias, or dysrhythmias, are irregularities in the heartbeat, including when it is too fast or too slow. 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 lightheadedness, passing out, shortness of breath or chest pain. While most cases of arrhythmia are not serious, some predispose a person to complications such as stroke or heart failure. Others may result in sudden death. Arrhythmias are often categorized into four groups: extra beats, supraventricular tachycardias, ventricular arrhythmias and bradyarrhythmias. Extra beats include premature atrial contractions, premature ventricular contra ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Valve Replacement
Valve replacement surgery is the replacement of one or more of the heart valves with either an artificial heart valve or a bioprosthesis (homograft from human tissue or xenograft e.g. from pig). It is an alternative to valve repair. __TOC__ Procedures There are four procedures * Aortic valve replacement * Mitral valve replacement * Tricuspid valve replacement * Pulmonary valve replacement Current aortic valve replacement approaches include closed heart surgery, Very invasive cardiac surgery (VICS) and Very invasive, Scapulae-based aortic valve replacement. Catheter replacement of the aortic valve (called trans-aortic valve replacement or implementation AVR or TAVI is a minimally invasive option for those suffering from aortic valve stenosis Aortic stenosis (AS or AoS) is the narrowing of the exit of the left ventricle of the heart (where the aorta begins), such that problems result. It may occur at the aortic valve as well as above and below this level. It typically gets ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Mitral Valve
The mitral valve (), also known as the bicuspid valve or left atrioventricular valve, is one of the four heart valves. It has two cusps or flaps and lies between the left atrium and the left ventricle of the heart. The heart valves are all one-way valves allowing blood flow in just one direction. The mitral valve and the tricuspid valve are known as the atrioventricular valves because they lie between the atria and the ventricles. In normal conditions, blood flows through an open mitral valve during diastole with contraction of the left atrium, and the mitral valve closes during systole with contraction of the left ventricle. The valve opens and closes because of pressure differences, opening when there is greater pressure in the left atrium than ventricle and closing when there is greater pressure in the left ventricle than atrium. In abnormal conditions, blood may flow backward through the valve ( mitral regurgitation) or the mitral valve may be narrowed (mitral stenosis). Rh ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Aortic Valve
The aortic valve is a valve in the heart of humans and most other animals, located between the left ventricle and the aorta. It is one of the four valves of the heart and one of the two semilunar valves, the other being the pulmonary valve. The aortic valve normally has three cusps or leaflets, although in 1–2% of the population it is found to congenitally have two leaflets. The aortic valve is the last structure in the heart the blood travels through before stopping the flow through the systemic circulation. Structure The aortic valve normally has three cusps however there is some discrepancy in their naming. They may be called the left coronary, right coronary and non-coronary cusp. Some sources also advocate they be named as a left, right and posterior cusp. Anatomists have traditionally named them the left posterior (origin of left coronary), anterior (origin of the right coronary) and right posterior. The three cusps, when the valve is closed, contain a sinus called an a ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Valvular Heart Disease
Valvular heart disease is any cardiovascular disease process involving one or more of the four valves of the heart (the aortic and mitral valves on the left side of heart and the pulmonic and tricuspid valves on the right side of heart). These conditions occur largely as a consequence of aging,Burden of valvular heart diseases: a population-based study. Nkomo VT, Gardin JM, Skelton TN, Gottdiener JS, Scott CG, Enriquez-Sarano. Lancet. 2006 Sep;368(9540):1005-11. but may also be the result of congenital (inborn) abnormalities or specific disease or physiologic processes including rheumatic heart disease and pregnancy. Anatomically, the valves are part of the dense connective tissue of the heart known as the cardiac skeleton and are responsible for the regulation of blood flow through the heart and great vessels. Valve failure or dysfunction can result in diminished heart functionality, though the particular consequences are dependent on the type and severity of valvular disease. ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Bone Fracture
A bone fracture (abbreviated FRX or Fx, Fx, or #) is a medical condition in which there is a partial or complete break in the continuity of any bone in the body. In more severe cases, the bone may be broken into several fragments, known as a ''comminuted fracture''. A bone fracture may be the result of high force impact or stress, or a minimal trauma injury as a result of certain medical conditions that weaken the bones, such as osteoporosis, osteopenia, bone cancer, or osteogenesis imperfecta, where the fracture is then properly termed a pathologic fracture. Signs and symptoms Although bone tissue contains no pain receptors, a bone fracture is painful for several reasons: * Breaking in the continuity of the periosteum, with or without similar discontinuity in endosteum, as both contain multiple pain receptors. * Edema and hematoma of nearby soft tissues caused by ruptured bone marrow evokes pressure pain. * Involuntary muscle spasms trying to hold bone fragments in place. D ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Bone Mineral Density
Bone density, or bone mineral density, is the amount of bone mineral in bone tissue. The concept is of mass of mineral per volume of bone (relating to density in the physics sense), although clinically it is measured by proxy according to optical density per square centimetre of bone surface upon imaging. Bone density measurement is used in clinical medicine as an indirect indicator of osteoporosis and fracture risk. It is measured by a procedure called densitometry, often performed in the radiology or nuclear medicine departments of hospitals or clinics. The measurement is painless and non-invasive and involves low radiation exposure. Measurements are most commonly made over the lumbar spine and over the upper part of the hip. The forearm may be scanned if the hip and lumbar spine are not accessible. There is a statistical association between poor bone density and higher probability of fracture. Fractures of the legs and pelvis due to falls are a significant public health pro ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Corneal Limbus
The corneal limbus (''Latin'': corneal border) is the border between the cornea and the sclera (the white of the eye). It contains stem cells in its palisades of Vogt. It may be affected by cancer or by aniridia (a developmental problem), among other issues. Structure The corneal limbus is the border between the cornea and the sclera. It is highly vascularised. Its stratified squamous epithelium is continuous with the epithelium covering the cornea. The corneal limbus contains radially-oriented fibrovascular ridges known as the palisades of Vogt that contain stem cells. The palisades of Vogt are more common in the superior and inferior quadrants around the eye. Clinical significance Cancer The corneal limbus is a common site for the occurrence of corneal epithelial neoplasm. Aniridia Aniridia, a developmental anomaly of the iris, disrupts the normal barrier of the cornea to the conjunctival epithelial cells at the limbus. Glaucoma The corneal limbus may be c ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |