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Hamartoma
A hamartoma is a mostly benign, local malformation of cells that resembles a neoplasm of local tissue but is usually due to an overgrowth of multiple aberrant cells, with a basis in a systemic genetic condition, rather than a growth descended from a single mutated cell ( monoclonality), as would typically define a benign neoplasm/tumor. Despite this, many hamartomas are found to have clonal chromosomal aberrations that are acquired through somatic mutations, and on this basis the term ''hamartoma'' is sometimes considered synonymous with neoplasm. Hamartomas are by definition benign, slow-growing or self-limiting, though the underlying condition may still predispose the individual towards malignancies. Hamartomas are usually caused by a genetic syndrome that affects the development cycle of all or at least multiple cells. Many of these conditions are classified as overgrowth syndromes or cancer syndromes. Hamartomas occur in many different parts of the body and are most often ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cowden Syndrome
Cowden syndrome (also known as Cowden's disease) 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 also known as multiple hamartoma syndrome, a name shared by a more general syndrome of the same name. 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 re ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tuberous Sclerosis
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease. TSC is caused by a mutation of either of two genes, '' TSC1'' and '' TSC2'', which code for the proteins hamartin and tuberin, respectively, with ''TSC2'' mutations accounting for the majority and tending to cause more severe symptoms. These proteins act as tumor growth suppressors, agents that regulate cell proliferation and differentiation. Prognosis is highly variable and depends on the symptoms, but life expectancy is normal for many. The prevalence of the disease is estimated to be 7 to 12 in 100,000. The disease is often abbreviated to tuberous sclerosis, which refers to t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 disorder) 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 total ... References External links Epidermal nevi, neoplasms, and cysts Syndromes affecting the skin Syndromic autis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PTEN (gene)
Phosphatase and tensin homolog (PTEN) is a phosphatase in humans and is encoded by the ''PTEN'' gene. Mutations of this gene are a step in the development of many cancers, specifically glioblastoma, lung cancer, breast cancer, and prostate cancer. Genes corresponding to PTEN (orthologs) have been identified in most mammals for which complete genome data are available. ''PTEN'' acts as a tumor suppressor gene through the action of its phosphatase protein product. This phosphatase is involved in the regulation of the cell cycle, preventing cells from growing and dividing too rapidly. It is a target of many anticancer drugs. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin-like domain as well as a catalytic domain similar to that of the dual specificity phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Choristoma
Choristomas, a form of heterotopia, are masses of normal tissues found in abnormal locations. In contrast to a neoplasm or tumor, the growth of a choristoma is normally regulated. It is different from a hamartoma. The two can be differentiated as follows: a hamartoma is disorganized overgrowth of tissues in their normal location (e.g., Peutz–Jeghers polyps), while a choristoma is normal tissue growth in an abnormal location (e.g., osseous choristoma, gastric tissue located in distal ileum The ileum () is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms posterior intestine or distal intestine may ... in Meckel diverticulum). References External links * {{pathology-stub Dermal and subcutaneous growths Anatomical pathology ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chest X-ray
A chest radiograph, chest X-ray (CXR), or chest film is a Projectional radiography, projection radiograph of the chest used to diagnose conditions affecting the chest, its contents, and nearby structures. Chest radiographs are the most common film taken in medicine. Like all methods of radiography, chest radiography employs ionizing radiation in the form of X-rays to generate images of the chest. The mean radiation dose to an adult from a chest radiograph is around 0.02 Sievert, mSv (2 Roentgen equivalent man, mrem) for a front view (PA, or posteroanterior) and 0.08 mSv (8 mrem) for a side view (LL, or latero-lateral). Together, this corresponds to a background radiation equivalent time of about 10 days. Medical uses Conditions commonly identified by chest radiography * Pneumonia * Pneumothorax * Interstitial lung disease * Heart failure * Fracture (bone), Bone fracture * Hiatal hernia * Pulmonary tuberculosis Chest radiographs are used to diagnose many conditions involving th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SMAD4
SMAD4, also called SMAD family member 4, Mothers against decapentaplegic homolog 4, or DPC4 (Deleted in Pancreatic Cancer-4) is a highly conserved protein present in all metazoans. It belongs to the SMAD family of transcription factor proteins, which act as mediators of TGF-β signal transduction. The TGFβ family of cytokines regulates critical processes during the lifecycle of metazoans, with important roles during embryo development, tissue homeostasis, regeneration, and immune regulation. SMAD 4 belongs to the co-SMAD group (''common mediator'' SMAD), the second class of the SMAD family. SMAD4 is the only known co-SMAD in most metazoans. It also belongs to the Dwarfin family of proteins that modulate members of the TGFβ protein superfamily, a family of proteins that all play a role in the regulation of cellular responses. Mammalian SMAD4 is a homolog of the ''Drosophila'' protein " Mothers against decapentaplegic" named Medea. SMAD4 interacts with R-Smads, such as SMA ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurofibromatosis Type I
Neurofibromatosis type I (NF-1), or von Recklinghausen syndrome, is a complex multi-system neurocutaneous disorder caused by a subset of genetic mutations at the neurofibromin 1 (''NF1'') locus. Other conditions associated with mutation of the ''NF1'' gene include Watson syndrome. NF-1 is a gene on chromosome 17 that is responsible for production of a protein (neurofibromin) which is needed for normal function in many human cell types. causes tumors along the nervous system that can grow anywhere on the body. is one of the most common genetic disorders and is not limited to any person's race or sex. NF-1 is an autosomal dominant disorder, which means that mutation or deletion of one copy (or allele) of the is sufficient for the development of , although presentation varies widely and is often different even between relatives affected by . , there are at least 100,000 people in the U.S. and about 25,000 people in the UK who have been diagnosed with NF. Common symptoms of inc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BMPR1A
The bone morphogenetic protein receptor, type IA also known as BMPR1A is a protein which in humans is encoded by the ''BMPR1A'' gene. BMPR1A has also been designated as CD292 (cluster of differentiation 292). Function The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A (this protein) and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF beta superfamily. TGF-betas and activins transduce their signals through the formation of heterodimeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
STK1
Pyruvate dehydrogenase kinase (also pyruvate dehydrogenase complex kinase, PDC kinase, or PDK; ) is a kinase enzyme which acts to inactivate the enzyme pyruvate dehydrogenase by phosphorylating it using ATP. PDK thus participates in the regulation of the pyruvate dehydrogenase complex of which pyruvate dehydrogenase is the first component. Both PDK and the pyruvate dehydrogenase complex are located in the mitochondrial matrix of eukaryotes. The complex acts to convert pyruvate (a product of glycolysis in the cytosol) to acetyl-coA, which is then oxidized in the mitochondria to produce energy, in the citric acid cycle. By downregulating the activity of this complex, PDK will decrease the oxidation of pyruvate in mitochondria and increase the conversion of pyruvate to lactate in the cytosol. The opposite action of PDK, namely the dephosphorylation and activation of pyruvate dehydrogenase, is catalyzed by a phosphoprotein phosphatase called pyruvate dehydrogenase phosphatase. (P ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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 non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hamartia
The term ''hamartia'' derives from the Greek , from ''hamartánein'', which means "to miss the mark" or "to err". It is most often associated with Greek tragedy, although it is also used in Christian theology. The term is often said to depict the flaws or defects of a character and portraying these as the reason of a potential downfall. However, other critics point to the term's derivation and say that it refers only to a tragic but random accident or mistake, with devastating consequences but with no judgment implied as to the character. Definition ''Hamartia'' as it pertains to dramatic literature was first used by Aristotle in his ''Poetics''. In tragedy, ''hamartia'' is commonly understood to refer to the protagonist's error that leads to a chain of actions which culminate in a reversal of events from felicity to disaster. What qualifies as the error or flaw varies, and can include an error resulting from ignorance, an error of judgment, an inherent flaw in the chara ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
