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Caroli Disease
Caroli disease (communicating cavernous ectasia, or congenital cystic dilatation of the intrahepatic biliary tree) is a rare inherited disorder characterized by cystic dilatation (or ectasia) of the bile ducts within the liver. There are two patterns of Caroli disease: focal or simple Caroli disease consists of abnormally widened bile ducts affecting an isolated portion of liver. The second form is more diffuse, and when associated with portal hypertension and congenital hepatic fibrosis, is often referred to as "Caroli syndrome". The underlying differences between the two types are not well understood. Caroli disease is also associated with liver failure and polycystic kidney disease. The disease affects about one in 1,000,000 people, with more reported cases of Caroli syndrome than of Caroli disease. Caroli disease is distinct from other diseases that cause ductal dilatation caused by obstruction, in that it is not one of the many choledochal cyst derivatives. Signs and sympto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Turbo Spin Echo
An MRI sequence in magnetic resonance imaging (MRI) is a particular setting of pulse sequences and pulsed field gradients, resulting in a particular image appearance. A multiparametric MRI is a combination of two or more sequences, and/or including other specialized MRI configurations such as spectroscopy. Spin echo T1 and T2 Each tissue returns to its equilibrium state after excitation by the independent relaxation processes of T1 ( spin-lattice; that is, magnetization in the same direction as the static magnetic field) and T2 ( spin-spin; transverse to the static magnetic field). To create a T1-weighted image, magnetization is allowed to recover before measuring the MR signal by changing the repetition time (TR). This image weighting is useful for assessing the cerebral cortex, identifying fatty tissue, characterizing focal liver lesions, and in general, obtaining morphological information, as well as for post-contrast imaging. To create a T2-weighted image, magnetiz ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney Failure
Kidney failure, also known as end-stage kidney disease, is a medical condition in which the kidneys can no longer adequately filter waste products from the blood, functioning at less than 15% of normal levels. Kidney failure is classified as either acute kidney failure, which develops rapidly and may resolve; and chronic kidney failure, which develops slowly and can often be irreversible. Symptoms may include leg swelling, feeling tired, vomiting, loss of appetite, and confusion. Complications of acute and chronic failure include uremia, high blood potassium, and volume overload. Complications of chronic failure also include heart disease, high blood pressure, and anemia. Causes of acute kidney failure include low blood pressure, blockage of the urinary tract, certain medications, muscle breakdown, and hemolytic uremic syndrome. Causes of chronic kidney failure include diabetes, high blood pressure, nephrotic syndrome, and polycystic kidney disease. Diagnosis of acute f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pancreas
The pancreas is an organ of the digestive system and endocrine system of vertebrates. In humans, it is located in the abdomen behind the stomach and functions as a gland. The pancreas is a mixed or heterocrine gland, i.e. it has both an endocrine and a digestive exocrine function. 99% of the pancreas is exocrine and 1% is endocrine. As an endocrine gland, it functions mostly to regulate blood sugar levels, secreting the hormones insulin, glucagon, somatostatin, and pancreatic polypeptide. As a part of the digestive system, it functions as an exocrine gland secreting pancreatic juice into the duodenum through the pancreatic duct. This juice contains bicarbonate, which neutralizes acid entering the duodenum from the stomach; and digestive enzymes, which break down carbohydrates, proteins, and fats in food entering the duodenum from the stomach. Inflammation of the pancreas is known as pancreatitis, with common causes including chronic alcohol use and gallstones. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver
The liver is a major organ only found in vertebrates which performs many essential biological functions such as detoxification of the organism, and the synthesis of proteins and biochemicals necessary for digestion and growth. In humans, it is located in the right upper quadrant of the abdomen, below the diaphragm. Its other roles in metabolism include the regulation of glycogen storage, decomposition of red blood cells, and the production of hormones. The liver is an accessory digestive organ that produces bile, an alkaline fluid containing cholesterol and bile acids, which helps the breakdown of fat. The gallbladder, a small pouch that sits just under the liver, stores bile produced by the liver which is later moved to the small intestine to complete digestion. The liver's highly specialized tissue, consisting mostly of hepatocytes, regulates a wide variety of high-volume biochemical reactions, including the synthesis and breakdown of small and complex molecule ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PKHD1
Fibrocystin is a large, receptor-like protein that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of epithelium. FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular pathway. Pathology Mutations of its encoding gene (chromosomal locus 6p12.2) can cause autosomal recessive polycystic kidney disease Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes. Mutations in the '' PKHD1'' (chromosomal locus 6p12.2) cause ARPKD. Signs .... PKHD1 gene codes for fibrocystin. Fibrocystin is found in the epithelial cell of both the renal tubule and the bile ducts. A mutation in PKHD1 (can be autosomal recessive pattern or spontaneous mutations) leading to a deficiency in fibrocystin causes chara ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ARPKD
Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes. Mutations in the ''PKHD1'' (chromosomal locus 6p12.2) cause ARPKD. Signs and symptoms Symptoms and signs include abdominal discomfort, polyuria, polydipsia, incidental discovery of hypertension, and abdominal mass. The classic presentation for ARPKD is systemic hypertension with progression to end-stage kidney disease (ESKD) by the age of 15. In a typical presentation, a small number of individuals with ARPKD live to adulthood with some kidney function; but with significant deterioration in liver function. This outcome is postulated to result from expression of the polycystic kidney and hepatic disease gene PKHD1, which is located on chromosome 6p. In severe cases, a fetus will present with oligohydramnios and as a result, may present with Potter sequence.Shastry SM, Kolte SS, Sanagapati PR. Potter's Sequenc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant ( allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomple ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pkhd1 Gene
Fibrocystin is a large, receptor-like protein that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of epithelium. FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular pathway. Pathology Mutations of its encoding gene (chromosomal locus 6p12.2) can cause autosomal recessive polycystic kidney disease Autosomal recessive polycystic kidney disease (ARPKD) is the recessive form of polycystic kidney disease. It is associated with a group of congenital fibrocystic syndromes. Mutations in the '' PKHD1'' (chromosomal locus 6p12.2) cause ARPKD. Signs .... PKHD1 gene codes for fibrocystin. Fibrocystin is found in the epithelial cell of both the renal tubule and the bile ducts. A mutation in PKHD1 (can be autosomal recessive pattern or spontaneous mutations) leading to a deficiency in fibrocystin causes char ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Melena
Melena or melaena refers to the dark black, tarry feces that are associated with upper gastrointestinal bleeding. The black color and characteristic strong odor are caused by hemoglobin in the blood being altered by digestive enzymes and intestinal bacteria. Iron supplements may cause a grayish-black stool that should be distinguished from melena, as should black coloration caused by a number of medications, such as bismuth subsalicylate (the active ingredient in Pepto-Bismol), or by foods such as beetroot, black liquorice, or blueberries. Causes The most common cause of melena is peptic ulcer disease. However, any bleeding within the upper gastrointestinal tract or the ascending colon can lead to melena. Melena may also be a complication of anticoagulant medications, such as warfarin. Causes of upper gastrointestinal bleeding that may result in melena include malignant tumors affecting the esophagus, stomach or small intestine, hemorrhagic blood diseases, such as thro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hematemesis
Hematemesis is the vomiting of blood. It is always an important sign. It can be confused with hemoptysis (coughing up blood) or epistaxis (nosebleed), which are more common. The source is generally the upper gastrointestinal tract, typically above the suspensory muscle of duodenum. It may be caused by ulcers, tumors of the stomach or esophagus, varices, prolonged and vigorous retching, gastroenteritis, ingested blood (from bleeding in the mouth, nose, or throat), or certain drugs. Hematemesis is treated as a medical emergency, with treatments based on the amount of blood loss. Investigations include endoscopy. Any blood loss may be corrected with intravenous fluids and blood transfusions. Patients may need to avoid taking anything by mouth. Definition Hematemesis is the vomiting of blood. This is usually vomit that contains bright red blood. Coffee ground vomiting is similar to hematemesis, but is distinct in not involving bright red blood. Hematemesis is always an import ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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