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Rotor Syndrome
Rotor syndrome (also known as Rotor type hyperbilirubinemia) is a rare cause of mixed direct (conjugated) and indirect (unconjugated) hyperbilirubinemia, relatively benign, autosomal recessive bilirubin disorder characterized by non-hemolytic jaundice due to the chronic elevation of predominantly conjugated bilirubin. Rotor type hyperbilirubinemia is a distinct yet similar disorder to Dubin–Johnson syndrome – both diseases cause an increase in conjugated bilirubin. Whereas rotor syndrome differs in that it is a result of impaired hepatocellular storage of conjugated bilirubin that leaks into plasma causing hyperbilirubinemia. Signs and symptoms Rotor syndrome has many features in common with Dubin–Johnson syndrome, an exception being that the liver cells are not pigmented. The main symptom is a non-itching jaundice. There is a rise in bilirubin in the patient's serum, mainly of the conjugated type. It can be differentiated from Dubin–Johnson syndrome in the following ...
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Bilirubin
Bilirubin (BR) (Latin for "red bile") is a red-orange compound that occurs in the normal catabolic pathway that breaks down heme in vertebrates. This catabolism is a necessary process in the body's clearance of waste products that arise from the destruction of aged or abnormal red blood cells. In the first step of bilirubin synthesis, the heme molecule is stripped from the hemoglobin molecule. Heme then passes through various processes of porphyrin catabolism, which varies according to the region of the body in which the breakdown occurs. For example, the molecules excreted in the urine differ from those in the feces. The production of biliverdin from heme is the first major step in the catabolic pathway, after which the enzyme biliverdin reductase performs the second step, producing bilirubin from biliverdin.Boron W, Boulpaep E. Medical Physiology: a cellular and molecular approach, 2005. 984–986. Elsevier Saunders, United States. Ultimately, bilirubin is broken down within ...
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SLCO1B1
Solute carrier organic anion transporter family member 1B1 is a protein that in humans is encoded by the ''SLCO1B1'' gene. Pharmacogenomic research indicates that genetic variations in this gene are associated with response to simvastatin. Clinical guidelines exist that can guide dosing of simvastatin based on SLCO1B1 gene variant using genotyping or whole exome sequencing In genetics and biochemistry, sequencing means to determine the primary structure (sometimes incorrectly called the primary sequence) of an unbranched biopolymer. Sequencing results in a symbolic linear depiction known as a sequence which succ .... See also * Solute carrier family References Further reading * * * * * * * * * * * * * * * * * * Solute carrier family {{membrane-protein-stub ...
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Consanguineous Couples
Consanguinity ("blood relation", from Latin '' consanguinitas'') is the characteristic of having a kinship with another person (being descended from a common ancestor). Many jurisdictions have laws prohibiting people who are related by blood from marrying or having sexual relations with each other. The degree of consanguinity that gives rise to this prohibition varies from place to place. Such rules are also used to determine heirs of an estate according to statutes that govern intestate succession, which also vary from jurisdiction to jurisdiction. In some places and time periods, cousin marriage is allowed or even encouraged; in others, it is taboo, and considered to be incest. The degree of relative consanguinity can be illustrated with a ''consanguinity table'' in which each level of lineal consanguinity (''generation'' or ''meiosis'') appears as a row, and individuals with a collaterally consanguineous relationship share the same row. The Knot System is a numerical notati ...
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Urine Coproporphyrin
Urine is a liquid by-product of metabolism in humans and in many other animals. Urine flows from the kidneys through the ureters to the urinary bladder. Urination results in urine being excreted from the body through the urethra. Cellular metabolism generates many by-products that are rich in nitrogen and must be cleared from the bloodstream, such as urea, uric acid, and creatinine. These by-products are expelled from the body during urination, which is the primary method for excreting water-soluble chemicals from the body. A urinalysis can detect nitrogenous wastes of the mammalian body. Urine plays an important role in the earth's nitrogen cycle. In balanced ecosystems, urine fertilizes the soil and thus helps plants to grow. Therefore, urine can be used as a fertilizer. Some animals use it to mark their territories. Historically, aged or fermented urine (known as lant) was also used for gunpowder production, household cleaning, tanning of leather and dyeing of textiles ...
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Cholecystography
Oral cholecystography is a radiological procedure used to visualize the gallbladder and biliary channels, developed in 1924 by American surgeons Evarts Ambrose Graham Evarts Ambrose Graham (1883–1957) was an American academic, physician, and surgeon. Early years and military service Born in Chicago, Illinois to a surgeon, Dr. David Wilson Graham, and Ida Ansbach Barned Graham, Evarts attended college at Prin ... and Warren Henry Cole. It is usually indicated in cases of suspected gallbladder disease, and can also be used to determine or rule out the presence of intermittent obstruction of the bile ducts or recurrent biliary disease after biliary surgery. A radiopaque cholegraphic (contrast) agent, usually iopanoic acid (Telepaque) or its sodium or calcium salt, is orally administered, which is absorbed by the intestine. This excreted material will collect in the gallbladder, where reabsorption of water concentrates the excreted contrast. Since only 10% of gallstones are ra ...
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Biliary Obstruction
A bile duct is any of a number of long tube-like structures that carry bile, and is present in most vertebrates. Bile is required for the digestion of food and is secreted by the liver into passages that carry bile toward the hepatic duct. It joins the cystic duct (carrying bile to and from the gallbladder) to form the common bile duct which then opens into the intestine. Structure The top half of the common bile duct is associated with the liver, while the bottom half of the common bile duct is associated with the pancreas, through which it passes on its way to the intestine. It opens into the part of the intestine called the duodenum via the ampulla of Vater. Segments The biliary tree (see below) is the whole network of various sized ducts branching through the liver. The path is as follows: Bile canaliculi → Canals of Hering → interlobular bile ducts → intrahepatic bile ducts → left and right hepatic ducts ''merge to form'' → common hepatic duct ''exits liver ...
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Biliary Tree
The biliary tract, (biliary tree or biliary system) refers to the liver, gallbladder and bile ducts, and how they work together to make, store and secrete bile. Bile consists of water, electrolytes, bile acids, cholesterol, phospholipids and conjugated bilirubin. Some components are synthesized by hepatocytes (liver cells), the rest are extracted from the blood by the liver. Bile is secreted by the liver into small ducts that join to form the common hepatic duct. Between meals, secreted bile is stored in the gallbladder. During a meal, the bile is secreted into the duodenum (part of the small intestine) to rid the body of waste stored in the bile as well as aid in the absorption of dietary fats and oils. Structure The biliary tract refers to the path by which bile is secreted by the liver then transported to the duodenum, the first part of the small intestine. A structure common to most members of the mammal family, the biliary tract is often referred to as a tree because ...
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Ultrasound Of The Liver
Ultrasound is sound waves with frequencies higher than the upper audible limit of human hearing. Ultrasound is not different from "normal" (audible) sound in its physical properties, except that humans cannot hear it. This limit varies from person to person and is approximately 20 kilohertz (20,000 hertz) in healthy young adults. Ultrasound devices operate with frequencies from 20 kHz up to several gigahertz. Ultrasound is used in many different fields. Ultrasonic devices are used to detect objects and measure distances. Ultrasound imaging or sonography is often used in medicine. In the nondestructive testing of products and structures, ultrasound is used to detect invisible flaws. Industrially, ultrasound is used for cleaning, mixing, and accelerating chemical processes. Animals such as bats and porpoises use ultrasound for locating prey and obstacles. History Acoustics, the science of sound, starts as far back as Pythagoras in the 6th century BC, who wrot ...
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Hyperbilirubinemia
Bilirubin (BR) (Latin for "red bile") is a red-orange compound that occurs in the normal catabolic pathway that breaks down heme in vertebrates. This catabolism is a necessary process in the body's clearance of waste products that arise from the destruction of aged or abnormal red blood cells. In the first step of bilirubin synthesis, the heme molecule is stripped from the hemoglobin molecule. Heme then passes through various processes of porphyrin catabolism, which varies according to the region of the body in which the breakdown occurs. For example, the molecules excreted in the urine differ from those in the feces. The production of biliverdin from heme is the first major step in the catabolic pathway, after which the enzyme biliverdin reductase performs the second step, producing bilirubin from biliverdin.Boron W, Boulpaep E. Medical Physiology: a cellular and molecular approach, 2005. 984–986. Elsevier Saunders, United States. Ultimately, bilirubin is broken down within t ...
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Alkaline Phosphatase
The enzyme alkaline phosphatase (EC 3.1.3.1, alkaline phosphomonoesterase; phosphomonoesterase; glycerophosphatase; alkaline phosphohydrolase; alkaline phenyl phosphatase; orthophosphoric-monoester phosphohydrolase (alkaline optimum), systematic name phosphate-monoester phosphohydrolase (alkaline optimum)) catalyses the following reaction: : a phosphate monoester + H2O = an alcohol + phosphate Alkaline phosphatase has the physiological role of dephosphorylating compounds. The enzyme is found across a multitude of organisms, prokaryotes and eukaryotes alike, with the same general function but in different structural forms suitable to the environment they function in. Alkaline phosphatase is found in the periplasmic space of '' E. coli'' bacteria. This enzyme is heat stable and has its maximum activity at high pH. In humans, it is found in many forms depending on its origin within the body – it plays an integral role in metabolism within the liver and development withi ...
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Gamma-glutamyl Transferase
Gamma-glutamyltransferase (also γ-glutamyltransferase, GGT, gamma-GT, gamma-glutamyl transpeptidase; ) is a transferase (a type of enzyme) that catalyzes the transfer of gamma-glutamyl functional groups from molecules such as glutathione to an acceptor that may be an amino acid, a peptide or water (forming glutamate). GGT plays a key role in the gamma-glutamyl cycle, a pathway for the synthesis and degradation of glutathione as well as drug and xenobiotic detoxification. Other lines of evidence indicate that GGT can also exert a pro-oxidant role, with regulatory effects at various levels in cellular signal transduction and cellular pathophysiology. This transferase is found in many tissues, the most notable one being the liver, and has significance in medicine as a diagnostic marker. Nomenclature The name γ-glutamyltransferase is preferred by the Nomenclature Committee of the International Union of Biochemistry and Molecular Biology. The Expert Panel on Enzymes of the In ...
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Aspartate Aminotransferase
Aspartate transaminase (AST) or aspartate aminotransferase, also known as AspAT/ASAT/AAT or (serum) glutamic oxaloacetic transaminase (GOT, SGOT), is a pyridoxal phosphate (PLP)-dependent transaminase enzyme () that was first described by Arthur Karmen and colleagues in 1954. AST catalyzes the reversible transfer of an α-amino group between aspartate and glutamate and, as such, is an important enzyme in amino acid metabolism. AST is found in the liver, heart, skeletal muscle, kidneys, brain, red blood cells and gall bladder. Serum AST level, serum ALT (alanine transaminase) level, and their ratio (AST/ALT ratio) are commonly measured clinically as biomarkers for liver health. The tests are part of blood panels. The half-life of total AST in the circulation approximates 17 hours and, on average, 87 hours for ''mitochondrial'' AST. Aminotransferase is cleared by sinusoidal cells in the liver. Function Aspartate transaminase catalyzes the interconversion of aspartate and α-k ...
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