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Facial Infiltrating Lipomatosis
Facial infiltrating lipomatosis (FIL), also referred to as congenital infiltrating lipomatosis of the face or facial infused lipomatosis, is an ultra-rare craniofacial overgrowth condition caused by a genetic mutation of the PIK3CA gene. The condition is a part of the PIK3CA related overgrowth spectrum (PROS). The disease is congenital and non-hereditary. First described by Slavin and colleagues in 1983. For this disease the mutation causes overgrowth of half of the face (hemifacial). It affects both soft and hard tissue (facial skeleton). The condition is noticeable at birth by the asymmetrical cheeks, with one cheek being prominently larger than the other. Signs & symptoms Congenital hemifacial enlargement in which mature lipocytes invade adjacent tissue. Phenotypic features include soft-tissue and skeletal hypertrophy and regional macrodontia. The manifestations are variable ranging from mild to severe. The overgrowth is typically present at birth. The most common feature ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital
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 b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amblyopia
Amblyopia, also called lazy eye, is a disorder of sight in which the brain fails to fully process input from one eye and over time favors the other eye. It results in decreased vision in an eye that typically appears normal in other aspects. Amblyopia is the most common cause of decreased vision in a single eye among children and younger adults. The cause of amblyopia can be any condition that interferes with focusing during early childhood. This can occur from poor alignment of the eyes (strabismic), an eye being irregularly shaped such that focusing is difficult, one eye being more nearsighted or farsighted than the other (refractive), or clouding of the lens of an eye (deprivational). After the underlying cause is addressed, vision is not restored right away, as the mechanism also involves the brain. Amblyopia can be difficult to detect, so vision testing is recommended for all children around the ages of four to five. Early detection improves treatment success. Glasse ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alpelisib
Alpelisib, sold under the brand name Piqray among others, is a medication used to treat certain types of breast cancer. It is used together with fulvestrant. It is taken by mouth. It is marketed by Novartis. Common side effects include high blood sugar, kidney problems, diarrhea, rash, low blood cells, liver problems, pancreatitis, vomiting, and hair loss. It is an alpha-specific PI3K inhibitor. It was approved for medical use in the United States in May 2019. Medical uses Alpelisib is indicated in combination with fulvestrant for the treatment of postmenopausal women, and men, with hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, PIK3CA-mutated, advanced or metastatic breast cancer as detected by an FDA-approved test following progression on or after an endocrine-based regimen. In the European Union, alpelisib is indicated in combination with fulvestrant for the treatment of postmenopausal women, and men, with hormone receptor (HR ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MTOR Inhibitors
mTOR inhibitors are a class of drugs that inhibit the mechanistic target of rapamycin (mTOR), which is a serine/threonine-specific protein kinase that belongs to the family of phosphatidylinositol-3 kinase (PI3K) related kinases (PIKKs). mTOR regulates cellular metabolism, growth, and proliferation by forming and signaling through two protein complexes, mTORC1 and mTORC2. The most established mTOR inhibitors are so-called rapalogs (rapamycin and its analogs), which have shown tumor responses in clinical trials against various tumor types. History The discovery of mTOR was made a few decades ago while investigating the mechanism of action of its inhibitor, rapamycin. Rapamycin was first discovered in 1975 in a soil sample from Easter Island of South Pacific, also known as Rapa Nui, from where its name is derived. Rapamycin is a macrolide, produced by the microorganism ''Streptomyces hygroscopicus'' and showed antifungal properties. Shortly after its discovery, immunosuppressive ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Angiogenesis
Angiogenesis is the physiological process through which new blood vessels form from pre-existing vessels, formed in the earlier stage of vasculogenesis. Angiogenesis continues the growth of the vasculature by processes of sprouting and splitting. Vasculogenesis is the embryonic formation of endothelial cells from mesoderm cell precursors, and from neovascularization, although discussions are not always precise (especially in older texts). The first vessels in the developing embryo form through vasculogenesis, after which angiogenesis is responsible for most, if not all, blood vessel growth during development and in disease. Angiogenesis is a normal and vital process in growth and development, as well as in wound healing and in the formation of granulation tissue. However, it is also a fundamental step in the transition of tumors from a benign state to a malignant one, leading to the use of angiogenesis inhibitors in the treatment of cancer. The essential role of angi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PI3K/AKT/mTOR Pathway
The PI3K/AKT/mTOR pathway is an intracellular signaling pathway important in regulating the cell cycle. Therefore, it is directly related to cellular quiescence, proliferation, cancer, and longevity. PI3K activation phosphorylates and activates AKT, localizing it in the plasma membrane. AKT can have a number of downstream effects such as activating CREB, inhibiting p27, localizing FOXO in the cytoplasm, activating PtdIns-3ps, and activating mTOR which can affect transcription of p70 or 4EBP1. There are many known factors that enhance the PI3K/AKT pathway including EGF, shh, IGF-1, insulin, and CaM. Both leptin and insulin recruit PI3K signalling for metabolic regulation. The pathway is antagonized by various factors including PTEN, GSK3B, and HB9. In many cancers, this pathway is overactive, thus reducing apoptosis and allowing proliferation. This pathway is necessary, however, to promote growth and proliferation over differentiation of adult stem cells, neural s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gain-of-function
Gain-of-function research (GoF research or GoFR) is medical research that genetically alters an organism in a way that may enhance the biological functions of gene products. This may include an altered pathogenesis, transmissibility, or host range, i.e. the types of hosts that a microorganism can infect. This research is intended to reveal targets to better predict emerging infectious diseases and to develop vaccines and therapeutics. For example, influenza B can infect only humans and harbor seals. Introducing a mutation that would allow influenza B to infect rabbits in a controlled laboratory situation would be considered a gain-of-function experiment, as the virus did not previously have that function. That type of experiment could then help reveal which parts of the virus's genome correspond to the species that it can infect, enabling the creation of antiviral medicines which block this function. In virology, gain-of-function research is usually employed with the intention o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PIK3CA-related Overgrowth Spectrum
PIK3CA-related overgrowth spectrum (PROS) is an umbrella term for rare syndromes characterized by malformations and tissue overgrowth caused by somatic mutations in PIK3CA gene. In PROS diseases individuals malformations are seen in several different tissues such as skin, vasculature, bones, fat and brain tissue depending on the specific disease. __TOC__ PROS spectrum diseases PROS spectrum diseases include: * Fibro-adipose vascular anomaly * Hemihyperplasia–multiple lipomatosis syndrome * CLOVES syndrome * Macrodactyly * Facial infiltrating lipomatosis * Macrocephaly-capillary malformation * Dysplastic megalencephaly * Klippel–Trénaunay syndrome Pathophysiology PIK3CA gene codes for p110α protein which is a catalytic subunit of phosphoinositide 3-kinase Phosphoinositide 3-kinases (PI3Ks), also called phosphatidylinositol 3-kinases, are a family of enzymes involved in cellular functions such as cell growth, proliferation, differentiation, motility, survival and intr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics ( phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultima ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Missense Mutation
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution. Substitution of protein from DNA mutations Missense mutation refers to a change in one amino acid in a protein, arising from a point mutation in a single nucleotide. Missense mutation is a type of nonsynonymous substitution in a DNA sequence. Two other types of nonsynonymous substitution are the nonsense mutations, in which a codon is changed to a premature stop codon that results in truncation of the resulting protein, and the nonstop mutations, in which a stop codon erasement results in a longer, nonfunctional protein. Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for human diseases such as Epidermolysis bullosa, sickle-cell disease, SOD1 mediated ALS, and a substantial number of cancers. In the most common variant of sickle-cell ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemimegalencephaly
Hemimegalencephaly (HME), or unilateral megalencephaly, is a rare congenital disorder affecting all or a part of a cerebral hemisphere. It causes severe seizures, which are often frequent and hard to control. A minority might have seizure control with medicines, but most will need removal or disconnection of the affected hemisphere as the best chance. Uncontrolled, they often cause progressive intellectual disability and brain damage and stop development. Symptoms and signs Seizures are the main symptom. There can be as many as hundreds of seizures a day. Seizures tend to begin soon after birth, but may sometimes commence during later infancy or, rarely, during early childhood. Other symptoms * Asymmetrical or enlarged head * Developmental delay * Progressive weakness of half the body * Progressive blindness of half the body Genetics Somatic activation of ''AKT3'' causes hemispheric developmental brain malformations. Pathophysiology It is a disorder related to excessive neur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
