Familial Cirrhosis
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Familial Cirrhosis
Familial cirrhosis is a form of liver disease that is inherited and the liver scarring is not caused by any obvious disease process. This type of cirrhosis is a keratin disease. Damage progresses until function becomes impaired. Current cirrhosis treatment is aimed at managing complications as well as chronic poor health related to liver damage. Treatments include abstinence from alcohol, nutritional supplement, identification of any identifiable disease process, management of portal hypertension, and liver transplantation. It is associated with KRT8 and KRT18. See also * Keratin disease A keratin disease is a genetic disorder of one of the keratin genes. An example is monilethrix. The first to be identified was epidermolysis bullosa simplex. Pathology Examples of keratin disease include: See also * List of cutaneous condition ... * Cirrhosis References Further reading * * * External links Congenital disorders of digestive system Cytoskeletal defect ...
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Liver Cirrhosis
Cirrhosis, also known as liver cirrhosis or hepatic cirrhosis, and end-stage liver disease, is the impaired liver function caused by the formation of scar tissue known as fibrosis due to damage caused by liver disease. Damage causes tissue repair and subsequent formation of scar tissue, which over time can replace normal functioning tissue, leading to the impaired liver function of cirrhosis. The disease typically develops slowly over months or years. Early symptoms may include tiredness, weakness, loss of appetite, unexplained weight loss, nausea and vomiting, and discomfort in the right upper quadrant of the abdomen. As the disease worsens, symptoms may include Pruritus, itchiness, peripheral edema, swelling in the lower legs, ascites, fluid build-up in the abdomen, jaundice, coagulopathy, bruising easily, and the development of spider angioma, spider-like blood vessels in the skin. The fluid build-up in the abdomen may become spontaneous bacterial peritonitis, spontaneously ...
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Hepatology
Hepatology is the branch of medicine that incorporates the study of liver, gallbladder, biliary tree, and pancreas as well as management of their disorders. Although traditionally considered a sub-specialty of gastroenterology, rapid expansion has led in some countries to doctors specializing solely on this area, who are called hepatologists. Diseases and complications related to viral hepatitis and alcohol are the main reason for seeking specialist advice. More than two billion people have been infected with hepatitis B virus at some point in their life, and approximately 350 million have become persistent carriers. Up to 80% of liver cancers can be attributed to either hepatitis B or hepatitis C virus. In terms of mortality, the former is second only to smoking among known agents causing cancer. With more widespread implementation of vaccination and strict screening before blood transfusion, lower infection rates are expected in the future. In many countries, however, overall ...
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Cirrhosis
Cirrhosis, also known as liver cirrhosis or hepatic cirrhosis, and end-stage liver disease, is the impaired liver function caused by the formation of scar tissue known as fibrosis due to damage caused by liver disease. Damage causes tissue repair and subsequent formation of scar tissue, which over time can replace normal functioning tissue, leading to the impaired liver function of cirrhosis. The disease typically develops slowly over months or years. Early symptoms may include tiredness, weakness, loss of appetite, unexplained weight loss, nausea and vomiting, and discomfort in the right upper quadrant of the abdomen. As the disease worsens, symptoms may include itchiness, swelling in the lower legs, fluid build-up in the abdomen, jaundice, bruising easily, and the development of spider-like blood vessels in the skin. The fluid build-up in the abdomen may become spontaneously infected. More serious complications include hepatic encephalopathy, bleeding from dilated veins ...
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Keratin Disease
A keratin disease is a genetic disorder of one of the keratin genes. An example is monilethrix. The first to be identified was epidermolysis bullosa simplex. Pathology Examples of keratin disease include: See also * List of cutaneous conditions caused by mutations in keratins There are many different keratin proteins normally expressed in the human integumentary system. Mutations in keratin proteins in the skin can cause disease. Of note, other structural proteins in the epidermis of the skin that are closely rel ... References Cytoskeletal defects {{Genodermatoses-stub ...
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KRT8
Keratin, type II cytoskeletal 8 also known as cytokeratin-8 (CK-8) or keratin-8 (K8) is a keratin protein that is encoded in humans by the ''KRT8'' gene. It is often paired with keratin 18. Utility as an immunohistochemical stain Antibodies to CK8 (e.g. CAM 5.2) can be used to differentiate breast cancer, lobular carcinoma of the breast from ductal carcinoma of the breast. CAM 5.2, an antibody that reacts with an epitope found on both CK8 and CK18, is used in immunohistochemistry to demonstrate certain forms of cancer. In normal tissue, it reacts mainly with secretory epithelium, epithelia, but not with squamous epithelium, such as that found in the skin, cervix, and esophagus. However, it also reacts with a range of malignant cells, including those derived from secretory epithelia, but also some squamous carcinomata, such as spindle cell carcinoma. It is considered useful in identifying microscopic metastasis, metastases of breast carcinoma in lymph nodes, and in distinguishing Pa ...
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KRT18
Keratin 18 is a type I cytokeratin. It is, together with its filament partner keratin 8, perhaps the most commonly found products of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. Keratin 18 is often used together with keratin 8 and keratin 19 to differentiate cells of epithelial origin from hematopoietic cells in tests that enumerate circulating tumor cell A circulating tumor cell (CTC) is a cell that has shed into the vasculature or lymphatics from a primary tumor and is carried around the body in the blood circulation. CTCs can extravasate and become ''seeds'' for the subsequent growth of additional ...s in blood. Interactions Keratin 18 has been shown to interact with Collagen, type XVII, alpha 1, DNAJB6, Pinin and TRADD. References Further reading * * * * * * * ...
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Keratin Disease
A keratin disease is a genetic disorder of one of the keratin genes. An example is monilethrix. The first to be identified was epidermolysis bullosa simplex. Pathology Examples of keratin disease include: See also * List of cutaneous conditions caused by mutations in keratins There are many different keratin proteins normally expressed in the human integumentary system. Mutations in keratin proteins in the skin can cause disease. Of note, other structural proteins in the epidermis of the skin that are closely rel ... References Cytoskeletal defects {{Genodermatoses-stub ...
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Cirrhosis
Cirrhosis, also known as liver cirrhosis or hepatic cirrhosis, and end-stage liver disease, is the impaired liver function caused by the formation of scar tissue known as fibrosis due to damage caused by liver disease. Damage causes tissue repair and subsequent formation of scar tissue, which over time can replace normal functioning tissue, leading to the impaired liver function of cirrhosis. The disease typically develops slowly over months or years. Early symptoms may include tiredness, weakness, loss of appetite, unexplained weight loss, nausea and vomiting, and discomfort in the right upper quadrant of the abdomen. As the disease worsens, symptoms may include itchiness, swelling in the lower legs, fluid build-up in the abdomen, jaundice, bruising easily, and the development of spider-like blood vessels in the skin. The fluid build-up in the abdomen may become spontaneously infected. More serious complications include hepatic encephalopathy, bleeding from dilated veins ...
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Congenital Disorders Of Digestive System
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visib ...
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