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Peutz–Jeghers Syndrome
Peutz–Jeghers syndrome (often abbreviated PJS) is an dominance (genetics), autosomal dominant genetic disorder characterized by the development of benign hamartomatous Polyp (medicine), polyps in the human gastrointestinal tract, gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa (melanosis). This syndrome can be classed as one of various heredity, hereditary intestinal polyposis syndromes and one of various hamartomatous polyposis syndromes. It has an incidence of approximately 1 in 25,000 to 300,000 births. Signs and symptoms The risks associated with this syndrome include a substantial risk of cancer, especially of the breast and gastrointestinal tracts. Colorectal is the most common malignancy, with a lifetime risk of 39 percent, followed by breast cancer in females with a lifetime risk of 32 to 54 percent. Patients with the syndrome also have an increased risk of developing carcinomas of the liver, lungs, breast, ovaries, uterus, testes, and other ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jan Peutz
Johannes "Jan" Laurentius Augustinus Peutz (24 March 1886 – 20 December 1957) was a Dutch internist. In 1921, he published a case report on a form of polyposis and pigmentation which was later named Peutz–Jeghers syndrome Peutz–Jeghers syndrome (often abbreviated PJS) is an dominance (genetics), autosomal dominant genetic disorder characterized by the development of benign hamartomatous Polyp (medicine), polyps in the human gastrointestinal tract, gastrointestinal .... References 1886 births 1957 deaths Dutch internists {{Netherlands-med-bio-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
STK11
Serine/threonine kinase 11 (STK11) also known as liver kinase B1 (LKB1) or renal carcinoma antigen NY-REN-19 is a protein kinase that in humans is encoded by the ''STK11'' gene. Expression Testosterone and DHT treatment of murine 3T3-L1 or human SGBS adipocytes for 24 h significantly decreased the mRNA expression of LKB1 via the androgen receptor and consequently reduced the activation of AMPK by phosphorylation. In contrast, 17β-estradiol treatment increased LKB1 mRNA, an effect mediated by oestrogen receptor alpha. However, in ER-positive breast cancer cell line MCF-7, estradiol caused a dose-dependent decrease in LKB1 transcript and protein expression leading to a significant decrease in the phosphorylation of the LKB1 target AMPK. ERα binds to the STK11 promoter in a ligand-independent manner and this interaction is decreased in the presence of estradiol. Moreover, STK11 promoter activity is significantly decreased in the presence of estradiol. Function The ''STK ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bowel
The gastrointestinal tract (GI tract, digestive tract, alimentary canal) is the tract or passageway of the digestive system that leads from the mouth to the anus. The tract is the largest of the body's systems, after the cardiovascular system. The GI tract contains all the major organs of the digestive system, in humans and other animals, including the esophagus, stomach, and intestines. Food taken in through the mouth is digested to extract nutrients and absorb energy, and the waste expelled at the anus as feces. ''Gastrointestinal'' is an adjective meaning of or pertaining to the stomach and intestines. Most animals have a "through-gut" or complete digestive tract. Exceptions are more primitive ones: sponges have small pores ( ostia) throughout their body for digestion and a larger dorsal pore ( osculum) for excretion, comb jellies have both a ventral mouth and dorsal anal pores, while cnidarians and acoels have a single pore for both digestion and excretion. The human gast ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PJS Natural History
PJS, PJs or PJ's may refer to: * Pajamas, a form of clothing * PJS v News Group Newspapers Ltd * Peutz–Jeghers syndrome, a genetic disease * Air Force Pararescue (the para jumpers) of the US Air Force * Starwood (nightclub)#P.J.'s, P.J.'s, later the Starwood, a nightclub in West Hollywood, California, US * ''The PJs'', a clay animated television series ** The PJs (soundtrack), ''The PJs'' (soundtrack), a soundtrack album from the TV series * PJ Trailers, a US company Schools * Pusan Japanese School, now Busan Japanese School * Portland Japanese School See also *PJ (other) {{Disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
LKB1
Serine/threonine kinase 11 (STK11) also known as liver kinase B1 (LKB1) or renal carcinoma antigen NY-REN-19 is a protein kinase that in humans is encoded by the ''STK11'' gene. Expression Testosterone (medication), Testosterone and Dihydrotestosterone, DHT treatment of murine 3T3-L1 or human SGBS adipocytes for 24 h significantly decreased the mRNA expression of LKB1 via the androgen receptor and consequently reduced the activation of AMP-activated protein kinase, AMPK by phosphorylation. In contrast, 17β-estradiol treatment increased LKB1 mRNA, an effect mediated by oestrogen receptor alpha. However, in ER-positive breast cancer cell line MCF-7, estradiol caused a dose-dependent decrease in LKB1 transcript and protein expression leading to a significant decrease in the phosphorylation of the LKB1 target AMPK. ESR1, ERα binds to the STK11 promoter in a ligand-independent manner and this interaction is decreased in the presence of estradiol. Moreover, STK11 promoter activity ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Differential Diagnosis
In healthcare, a differential diagnosis (DDx) is a method of analysis that distinguishes a particular disease or condition from others that present with similar clinical features. Differential diagnostic procedures are used by clinicians to diagnose the specific disease in a patient, or, at least, to consider any imminently life-threatening conditions. Often, each possible disease is called a differential diagnosis (e.g., acute bronchitis could be a differential diagnosis in the evaluation of a cough, even if the final diagnosis is common cold). More generally, a differential diagnostic procedure is a systematic diagnostic method used to identify the presence of a disease entity where multiple alternatives are possible. This method may employ algorithms, akin to the process of elimination, or at least a process of obtaining information that decreases the "probabilities" of candidate conditions to negligible levels, by using evidence such as symptoms, patient history, and medi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
McCune–Albright Syndrome
McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in '' GNAS'', which encodes the alpha-subunit of the Gs heterotrimeric G protein. It was first described in 1937 by American pediatrician Donovan James McCune and American endocrinologist Fuller Albright. Signs and symptoms McCune–Albright syndrome is suspected when two or more of the following features are present: * Fibrous dysplasia (specifically, polyostotic fibrous dysplasia) * Hyperpigmented skin lesions with characteristic features, including jagged "coast of Maine" borders and tendency occur along the midline of the body. These lesions are historically termed café au lait macules, however the term "cafe-au-lait" only describes their appearance on lighter-skinned individuals. * Hyperfunctioning endocrine disease Patients may have one or many of these features, which may occur in any combinatio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Addison's Disease
Addison's disease, also known as primary adrenal insufficiency, is a rare long-term endocrine disorder characterized by inadequate production of the steroid hormones cortisol and aldosterone by the two outer layers of the cells of the adrenal glands ( adrenal cortex), causing adrenal insufficiency. Symptoms generally develop slowly and insidiously and may include abdominal pain and gastrointestinal abnormalities, weakness, and weight loss. Darkening of the skin in certain areas may also occur. Under certain circumstances, an adrenal crisis may occur with low blood pressure, vomiting, lower back pain, and loss of consciousness. Mood changes may also occur. Rapid onset of symptoms indicates acute adrenal failure, which is a clinical emergency. An adrenal crisis can be triggered by stress, such as from an injury, surgery, or infection. Addison's disease arises when the adrenal gland does not produce sufficient amounts of the steroid hormones cortisol and (sometimes) a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mucosa
A mucous membrane or mucosa is a membrane that lines various cavities in the body of an organism and covers the surface of internal organs. It consists of one or more layers of epithelial cells overlying a layer of loose connective tissue. It is mostly of endodermal origin and is continuous with the skin at body openings such as the eyes, eyelids, ears, inside the nose, inside the mouth, lips, the genital areas, the urethral opening and the anus. Some mucous membranes secrete mucus, a thick protective fluid. The function of the membrane is to stop pathogens and dirt from entering the body and to prevent bodily tissues from becoming dehydrated. Structure The mucosa is composed of one or more layers of epithelial cells that secrete mucus, and an underlying lamina propria of loose connective tissue. The type of cells and type of mucus secreted vary from organ to organ and each can differ along a given tract. Mucous membranes line the digestive, respiratory and rep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mucocutaneous Boundary
A mucocutaneous junction, or mucocutaneous boundary, is a region of the body in which mucosa transitions to skin. Mucocutaneous zones occur in animals, at the body orifices. In humans, mucocutaneous junctions are found at the lips, nostrils, conjunctivae, urethra, vagina (in females), foreskin (in males), clitoral hood (in females), and anus. In the nostrils the mucocutaneous junction has a dense microvascular network, and shows a marked similarity to that found in the mouth, between the oral mucosa and the lips. At a mucocutaneous junction, epithelium transitions to epidermis, lamina propria transitions to dermis, and smooth muscle transitions to skeletal muscle. A mucocutaneous junction is often the site of an arterial anastomosis An anastomosis (, : anastomoses) is a connection or opening between two things (especially cavities or passages) that are normally diverging or branching, such as between blood vessels, leaf veins, or streams. Such a connection may be normal (su ... ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
