Juvenile Polyposis
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Juvenile Polyposis
Juvenile polyposis syndrome is an autosomal dominant genetic condition characterized by the appearance of multiple juvenile polyps in the gastrointestinal tract. Polyps are abnormal growths arising from a mucous membrane. These usually begin appearing before age 20, but the term ''juvenile'' refers to the type of polyp (i.e benign hamartoma, as opposed to adenoma for example), not to the age of the affected person. While the majority of the polyps found in juvenile polyposis syndrome are non-neoplastic, hamartomatous, self-limiting and benign, there is an increased risk of adenocarcinoma. Solitary juvenile polyps most commonly occur in the rectum and present with rectal bleeding. The World Health Organization criteria for diagnosis of juvenile polyposis syndrome are one of either: # More than five juvenile polyps in the colon or rectum; or # Juvenile polyps throughout the gastrointestinal tract; or # Any number of juvenile polyps in a person with a family history of juvenile po ...
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Micrograph
A micrograph or photomicrograph is a photograph or digital image taken through a microscope or similar device to show a magnified image of an object. This is opposed to a macrograph or photomacrograph, an image which is also taken on a microscope but is only slightly magnified, usually less than 10 times. Micrography is the practice or art of using microscopes to make photographs. A micrograph contains extensive details of microstructure. A wealth of information can be obtained from a simple micrograph like behavior of the material under different conditions, the phases found in the system, failure analysis, grain size estimation, elemental analysis and so on. Micrographs are widely used in all fields of microscopy. Types Photomicrograph A light micrograph or photomicrograph is a micrograph prepared using an optical microscope, a process referred to as ''photomicroscopy''. At a basic level, photomicroscopy may be performed simply by connecting a camera to a microscope, th ...
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Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ...
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Hereditary Cancers
A cancer syndrome, or family cancer syndrome, is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancers and may also cause the early onset of these cancers. Cancer syndromes often show not only a high lifetime risk of developing cancer, but also the development of multiple independent primary tumors. Many of these syndromes are caused by mutations in tumor suppressor genes, genes that are involved in protecting the cell from turning cancerous. Other genes that may be affected are DNA repair genes, oncogenes and genes involved in the production of blood vessels (angiogenesis). Common examples of inherited cancer syndromes are hereditary breast-ovarian cancer syndrome and hereditary non-polyposis colon cancer (Lynch syndrome). Background Hereditary cancer syndromes underlie 5 to 10% of all cancers and there are over 50 identifiable hereditary forms of cancer. Scientific understanding of cancer su ...
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Pediatric Cancers
Childhood cancer is cancer in a child. About 80% of childhood cancer cases can be successfully treated thanks to modern medical treatments and optimal patient care. However, only about 10% of children diagnosed with cancer reside in high-income countries where the necessary treatments and care is available. Childhood cancer represents only about 1% of all types of cancers diagnosed in children and adults. For this reason, childhood cancer is often ignored in control planning, contributing to the burden of missed opportunities for its diagnoses and management in countries that are low- and mid-income. In the United States, an arbitrarily adopted standard of the ages used are 0–14 years inclusive, that is, up to 14 years 11.9 months of age. However, the definition of childhood cancer sometimes includes adolescents between 15 and 19 years old. Pediatric oncology is the branch of medicine concerned with the diagnosis and treatment of cancer in children. Signs and symptoms Leukemi ...
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Cell Surface Receptor Deficiencies
Cell most often refers to: * Cell (biology), the functional basic unit of life Cell may also refer to: Locations * Monastic cell, a small room, hut, or cave in which a religious recluse lives, alternatively the small precursor of a monastery with only a few monks or nuns * Prison cell, a room used to hold people in prisons Groups of people * Cell, a group of people in a cell group, a form of Christian church organization * Cell, a unit of a clandestine cell system, a penetration-resistant form of a secret or outlawed organization * Cellular organizational structure, such as in business management Science, mathematics, and technology Computing and telecommunications * Cell (EDA), a term used in an electronic circuit design schematics * Cell (microprocessor), a microprocessor architecture developed by Sony, Toshiba, and IBM * Memory cell (computing), the basic unit of (volatile or non-volatile) computer memory * Cell, a unit in a database table or spreadsheet, formed by the in ...
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Malignancy
Malignancy () is the tendency of a medical condition to become progressively worse. Malignancy is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous ''benign'' tumor in that a malignancy is not self-limited in its growth, is capable of invading into adjacent tissues, and may be capable of spreading to distant tissues. A benign tumor has none of those properties. Malignancy in cancers is characterized by anaplasia, invasiveness, and metastasis. Malignant tumors are also characterized by genome instability, so that cancers, as assessed by whole genome sequencing, frequently have between 10,000 and 100,000 mutations in their entire genomes. Cancers usually show tumour heterogeneity, containing multiple subclones. They also frequently have reduced expression of DNA repair enzymes due to epigenetic methylation of DNA repair genes or altered microRNAs that control DNA repair gene expression. Tumours can be detected through the visual ...
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Colectomy
Colectomy ('' col-'' + '' -ectomy'') is bowel resection of the large bowel ( colon). It consists of the surgical removal of any extent of the colon, usually segmental resection (partial colectomy). In extreme cases where the entire large intestine is removed, it is called total colectomy, and proctocolectomy ('' procto-'' + ''colectomy'') denotes that the rectum is included. Indications Some of the most common indications for colectomy are: * Colon cancer * Diverticulitis and diverticular disease of the large intestine * Trauma * Inflammatory bowel disease such as ulcerative colitis or Crohn's disease. Colectomy neither cures nor eliminates Crohn's disease, instead only removing part of the entire diseased large intestine. A colectomy is considered a "cure" for ulcerative colitis because the disease attacks only the large intestine and therefore will not be able to flare up again if the entire large intestine (cecum, ascending colon, transverse colon, descending colon and si ...
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Malignant
Malignancy () is the tendency of a medical condition to become progressively worse. Malignancy is most familiar as a characterization of cancer. A ''malignant'' tumor contrasts with a non-cancerous ''benign'' tumor in that a malignancy is not self-limited in its growth, is capable of invading into adjacent tissues, and may be capable of spreading to distant tissues. A benign tumor has none of those properties. Malignancy in cancers is characterized by anaplasia, invasiveness, and metastasis. Malignant tumors are also characterized by genome instability, so that cancers, as assessed by whole genome sequencing, frequently have between 10,000 and 100,000 mutations in their entire genomes. Cancers usually show tumour heterogeneity, containing multiple subclones. They also frequently have reduced expression of DNA repair enzymes due to epigenetic methylation of DNA repair genes or altered microRNAs that control DNA repair gene expression. Tumours can be detected through the visual ...
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Cell Biology
Cell biology (also cellular biology or cytology) is a branch of biology that studies the structure, function, and behavior of cells. All living organisms are made of cells. A cell is the basic unit of life that is responsible for the living and functioning of organisms. Cell biology is the study of structural and functional units of cells. Cell biology encompasses both prokaryotic and eukaryotic cells and has many subtopics which may include the study of cell metabolism, cell communication, cell cycle, biochemistry, and cell composition. The study of cells is performed using several microscopy techniques, cell culture, and cell fractionation. These have allowed for and are currently being used for discoveries and research pertaining to how cells function, ultimately giving insight into understanding larger organisms. Knowing the components of cells and how cells work is fundamental to all biological sciences while also being essential for research in biomedical fields such as ...
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Endoscopies
An endoscopy is a procedure used in medicine to look inside the body. The endoscopy procedure uses an endoscope to examine the interior of a hollow organ or cavity of the body. Unlike many other medical imaging techniques, endoscopes are inserted directly into the organ. There are many types of endoscopies. Depending on the site in the body and type of procedure, an endoscopy may be performed by either a doctor or a surgeon. A patient may be fully conscious or anaesthetised during the procedure. Most often, the term ''endoscopy'' is used to refer to an examination of the upper part of the gastrointestinal tract, known as an esophagogastroduodenoscopy. For nonmedical use, similar instruments are called borescopes. History Adolf Kussmaul was fascinated by sword swallowers who would insert a sword down their throat without gagging. This drew inspiration to insert a camera, the next problem to solve was how to insert a source of light, as they were still relying on candles a ...
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PTEN Hamartoma Tumor Syndrome
Multiple hamartoma syndrome is a syndrome characterized by more than one hamartoma. It is sometimes equated with Cowden syndrome. However, MeSH also includes Bannayan–Zonana syndrome (that is, Bannayan–Riley–Ruvalcaba syndrome) and Lhermitte–Duclos disease under this description. Some articles include Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and at least some forms of Proteus syndrome and Proteus-like syndrome under the umbrella term PTEN hamartoma tumor syndromes (PHTS). See also * PTEN (gene) * List of cutaneous conditions * List of syndromes * Characteristics of syndromic ASD conditions Syndromic autism (or syndromic autism spectrum disorders) denotes cases of autism spectrum disorder that are associated with a broader medical condition, generally a syndrome. Cases without such association, which account for the majority of tota ... References External links Epidermal nevi, neoplasms, and cysts Syndromes affecting the skin {{epidermal ...
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Cowden Syndrome
Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers. It is often underdiagnosed due to variability in disease presentation, but 99% of patients report mucocutaneous symptoms by age 20–29. Despite some considering it a primarily dermatologic condition, Cowden's syndrome is a multi-system disorder that also includes neurodevelopmental disorders such as macrocephaly. The incidence of Cowden's disease is about 1 in 200,000, making it quite rare. Furthermore, early and continuous screening is essential in the management of this disorder to prevent malignancies. It is associated with mutations in PTEN on 10q23.3, a tumor suppressor gene otherwise known as phosphatase and tensin homolog, that results in dysregulation of the mTOR pathway leading to errors in cell proliferation, ...
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