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Peutz–Jeghers Syndrome
Peutz–Jeghers syndrome (often abbreviated PJS) is an autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa (melanosis). This syndrome can be classed as one of various 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 organs. Specifically, it is associated with an increased risk of sex-cord strom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dominance (genetics)
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 incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Family History (medicine)
In medicine, a family history (FH or FHx) consists of information about disorders of direct blood relatives of the patient. Genealogy typically includes very little of the medical history of the family, but the medical history could be considered a specific subset of the total history of a family. Accurate knowledge of a patient's family history may identify a predisposition to developing certain illnesses, which can inform clinical decisions and allow effective management or even prevention of conditions. Eugenic Origins and Applications Early mentions of family medical histories in medical literature date from the 1840s. Henry Ancell mentioned inquiring about the family history of a patient in a medical case study in 1842, noting that the patient's presenting concern appears to be present in relatives and remarking on the prolific reproduction of her female relatives. In 1849, W.H. Walshe argued in a lecture at University College Hospital that in addition to a history of the pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Colonoscopy
Colonoscopy () or coloscopy () is the endoscopic examination of the large bowel and the distal part of the small bowel with a CCD camera or a fiber optic camera on a flexible tube passed through the anus. It can provide a visual diagnosis (''e.g.,'' ulceration, polyps) and grants the opportunity for biopsy or removal of suspected colorectal cancer lesions. Colonoscopy can remove polyps smaller than one millimeter. Once polyps are removed, they can be studied with the aid of a microscope to determine if they are precancerous or not. Colonoscopy is similar to sigmoidoscopy—the difference being related to which parts of the colon each can examine. A colonoscopy allows an examination of the entire colon (1,200–1,500mm in length). A sigmoidoscopy allows an examination of the distal portion (about 600mm) of the colon, which may be sufficient because benefits to cancer survival of colonoscopy have been limited to the detection of lesions in the distal portion of the colon. [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Esophagogastroduodenoscopy
Esophagogastroduodenoscopy (EGD) or oesophagogastroduodenoscopy (OGD), also called by various other names, is a diagnostic endoscopic procedure that visualizes the upper part of the gastrointestinal tract down to the duodenum. It is considered a minimally invasive procedure since it does not require an incision into one of the major body cavities and does not require any significant recovery after the procedure (unless sedation or anesthesia has been used). However, a sore throat is common. Alternative names The words ''esophagogastroduodenoscopy'' (EGD; American English) and ''oesophagogastroduodenoscopy'' (OGD; British English; see spelling differences) are both pronounced . It is also called ''panendoscopy'' (PES) and ''upper GI endoscopy''. It is also often called just ''upper endoscopy'', ''upper GI'', or even just ''endoscopy''; because EGD is the most commonly performed type of endoscopy, the ambiguous term ''endoscopy'' is sometimes informally used to refer to EGD b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Multiple Polyps And At Large Mass At The Hepatic Flexure
Multiple may refer to: Economics *Multiple finance, a method used to analyze stock prices *Multiples of the price-to-earnings ratio *Chain stores, are also referred to as 'Multiples' * Box office multiple, the ratio of a film's total gross to that of its opening weekend Sociology *Multiples (sociology), a theory in sociology of science by Robert K. Merton, see Science * Multiple (mathematics), multiples of numbers *List of multiple discoveries, instances of scientists, working independently of each other, reaching similar findings *Multiple birth, because having twins is sometimes called having "multiples" * Multiple sclerosis, an inflammatory disease *Parlance for people with multiple identities, sometimes called "multiples"; often theorized as having dissociative identity disorder Printing * Printmaking, where ''multiple'' is often used as a term for a print, especially in the US * Artist's multiple, series of identical prints, collages or objects by an artist, subverting the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intussusception (medical Disorder)
Intussusception is a medical condition in which a part of the intestine folds into the section immediately ahead of it. It typically involves the small bowel and less commonly the large bowel. Symptoms include abdominal pain which may come and go, vomiting, abdominal bloating, and bloody stool. It often results in a small bowel obstruction. Other complications may include peritonitis or bowel perforation. The cause in children is typically unknown; in adults a ''lead point'' is sometimes present. Risk factors in children include certain infections, diseases like cystic fibrosis, and intestinal polyps. Risk factors in adults include endometriosis, bowel adhesions, and intestinal tumors. Diagnosis is often supported by medical imaging. In children, ultrasound is preferred while in adults a CT scan is preferred. Intussusception is an emergency requiring rapid treatment. Treatment in children is typically by an enema with surgery used if this is not successful. Dexamethasone ma ... [...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 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 gastrointestinal tract consists of the esophagus, stomach, and intestines, and is divi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Melanotic Macule
Mucosal lentigines is a cutaneous condition characterized by light brown macules on mucosal surfaces. See also * Lentigo * Skin lesion A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of th ... References Melanocytic nevi and neoplasms {{Cutaneous-condition-stub ... [...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 * P.J.'s, later the Starwood, a nightclub in West Hollywood, California, US * ''The PJs'', a clay animated television series ** ''The PJs'' (soundtrack), a soundtrack album from the TV series * PJ Trailers, a US company Schools * Pusan Japanese School, now Busan Japanese School , formerly known in English as Pusan Japanese School (PJS), is a Japanese international school in Suyeong District, Busan, South Korea, from central Busan, and in proximity to Gwangalli Beach (a.k.a. Gwangan Beach). The Busan Japanese School is ... * Portland Japanese School See also * PJ (other) {{Disambiguation ... [...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 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 ''STK11/L ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Differential Diagnosis
In healthcare, a differential diagnosis (abbreviated DDx) is a method of analysis of a patient's history and physical examination to arrive at the correct diagnosis. It involves distinguishing 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 individual option of a 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 shrinks the "p ... [...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 * 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 combination. As such, the clinical presentation of patients w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
