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Atypical Hemolytic Uremic Syndrome
Atypical hemolytic uremic syndrome (aHUS) is an extremely rare, life-threatening, progressive disease that frequently has a genetic component. In most cases it can be effectively controlled by interruption of the complement cascade. Particular monoclonal antibodies, discussed later in the article, have proven efficacy in many cases. AHUS is usually caused by chronic, uncontrolled activation of the complement system, a branch of the body's immune system that destroys and removes foreign particles. The disease affects both children and adults and is characterized by systemic thrombotic microangiopathy (TMA), the formation of blood clots in small blood vessels throughout the body, which can lead to stroke, heart attack, kidney failure, and death. The complement system activation may be due to mutations in the complement regulatory proteins (factor H, factor I, or membrane cofactor protein), or is occasionally due to acquired neutralizing autoantibody inhibitors of these complement ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Complement System
The complement system, also known as complement cascade, is a part of the immune system that enhances (complements) the ability of antibodies and phagocytic cells to clear microbes and damaged cells from an organism, promote inflammation, and attack the pathogen's cell membrane. It is part of the innate immune system, which is not adaptable and does not change during an individual's lifetime. The complement system can, however, be recruited and brought into action by antibodies generated by the adaptive immune system. The complement system consists of a number of small proteins that are synthesized by the liver, and circulate in the blood as inactive precursors. When stimulated by one of several triggers, proteases in the system cleave specific proteins to release cytokines and initiate an amplifying cascade of further cleavages. The end result of this ''complement activation'' or ''complement fixation'' cascade is stimulation of phagocytes to clear foreign and damaged material ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blood Disorders
Hematologic diseases are disorders which primarily affect the blood & blood-forming organs. Hematologic diseases include rare genetic disorders, anemia, HIV, sickle cell disease & complications from chemotherapy or transfusions. Myeloid * Hemoglobinopathies (congenital abnormality of the hemoglobin molecule or of the rate of hemoglobin synthesis) ** Sickle cell disease ** Thalassemia ** Methemoglobinemia * Anemias (lack of red blood cells or hemoglobin) ** Iron-deficiency anemia ** Megaloblastic anemia *** Vitamin B12 deficiency **** Pernicious anemia *** Folate deficiency ** Hemolytic anemias (destruction of red blood cells) *** Genetic disorders of RBC membrane **** Hereditary spherocytosis **** Hereditary elliptocytosis **** Congenital dyserythropoietic anemia *** Genetic disorders of RBC metabolism **** Glucose-6-phosphate dehydrogenase deficiency (G6PD) **** Pyruvate kinase deficiency *** Immune mediated hemolytic anemia (direct Coombs test is positive) **** Autoimmune hemo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
NICE
Nice ( , ; Niçard: , classical norm, or , nonstandard, ; it, Nizza ; lij, Nissa; grc, Νίκαια; la, Nicaea) is the prefecture of the Alpes-Maritimes department in France. The Nice agglomeration extends far beyond the administrative city limits, with a population of nearly 1 millionDemographia: World Urban Areas , Demographia.com, April 2016 on an area of . Located on the , the southeastern coast of France on the , at the foot of the |
Orphan Drug
An orphan drug is a pharmaceutical agent developed to treat medical conditions which, because they are so rare, would not be profitable to produce without government assistance. The conditions are referred to as orphan diseases. The assignment of orphan status to a disease and to drugs developed to treat it is a matter of public policy in many countries and has yielded medical breakthroughs that might not otherwise have been achieved, due to the economics of drug research and development. In the U.S. and the EU, it is easier to gain marketing approval for an orphan drug. There may be other financial incentives, such as an extended period of exclusivity, during which the producer has sole rights to market the drug. All are intended to encourage development of drugs which would otherwise lack sufficient profit motive to attract corporate research budgets and personnel. Definition According to the US Food and Drug Administration (FDA), an orphan drug is defined as one "intended for ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eculizumab
Eculizumab, sold under the brand name Soliris among others, is a medication used to treat paroxysmal nocturnal hemoglobinuria (PNH), atypical hemolytic uremic syndrome (aHUS), generalized myasthenia gravis, and neuromyelitis optica. In people with PNH, it reduces both the destruction of red blood cells and need for blood transfusion, but does not appear to affect the risk of death. Eculizumab was the first drug approved for each of its uses, and its approval was granted based on small trials. It is given in a clinic by intravenous (IV) infusion. Side effects include a risk for meningococcal infections and it is only prescribed to those who have enrolled in and follow a risk evaluation and mitigation strategy, which involves counseling people and ensuring that they are vaccinated. It is a humanized monoclonal antibody functioning as a terminal complement inhibitor. It has been developed, manufactured, and marketed by Alexion Pharmaceuticals, which had patent exclusivity un ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plasma Infusion
Plasma or plasm may refer to: Science * Plasma (physics), one of the four fundamental states of matter * Plasma (mineral), a green translucent silica mineral * Quark–gluon plasma, a state of matter in quantum chromodynamics Biology * Blood plasma, the yellow-colored liquid component of blood, in which blood cells are suspended * Cytoplasm, a jelly-like substance that fills cells, suspends and protects organelles * Germ plasm, a zone in the cytoplasm determining germ cells * Germplasm, describes a collection of genetic resources for an organism * Milk plasma or whey, the liquid remaining after milk has been curdled and strained * Nucleoplasm, a highly viscous liquid that surrounds the chromosomes and nucleoli * Plasma cell, white blood cells that secrete large volumes of antibodies * Protoplasm, the entire living substance inside the cell membrane or cell wall Technology * Plasma (engine), a real-time 3D game engine from Cyan Worlds * Plasma display, a flat-panel electronic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plasma Exchange
Plasmapheresis (from the Greek πλάσμα, ''plasma'', something molded, and ἀφαίρεσις ''aphairesis'', taking away) is the removal, treatment, and return or exchange of blood plasma or components thereof from and to the blood circulation. It is thus an extracorporeal therapy, a medical procedure performed outside the body. Three general types of plasmapheresis can be distinguished: * ''Autologuous'', removing blood plasma, treating it in some way, and returning it to the same person, as a therapy. * ''Exchange'', a patient's blood plasma is removed, while blood products are given in replacement. This type is called plasma exchange (PE, PLEX, or PEX) or plasma exchange therapy (PET). The removed plasma is discarded and the patient receives replacement donor plasma, albumin, or a combination of albumin and saline (usually 70% albumin and 30% saline). * ''Donation'', removing blood plasma, separating its components, and returning some of them to the same person, while hol ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ADAMTS13
ADAMTS13 (''a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13'')—also known as ''von Willebrand factor-cleaving protease'' (VWFCP)—is a zinc-containing metalloprotease enzyme that cleaves von Willebrand factor (vWf), a large protein involved in blood clotting. It is secreted into the blood and degrades large vWf multimers, decreasing their activity. Genetics The ''ADAMTS13'' gene maps to the ninth chromosome (9q34). Discovery Since 1982 it had been known that thrombotic thrombocytopenic purpura (TTP), one of the microangiopathic hemolytic anemias (see below), was characterized in its familial form by the presence in plasma of unusually large von Willebrand factor multimers (ULVWF). In 1994, vWF was shown to be cleaved between a tyrosine at position 1605 and a methionine at 1606 by a plasma metalloprotease enzyme when it was exposed to high levels of shear stress. In 1996, two research groups independently further characterized this enzyme. In t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thrombotic Thrombocytopenic Purpura
Thrombotic thrombocytopenic purpura (TTP) is a blood disorder that results in blood clots forming in small blood vessels throughout the body. This results in a low platelet count, low red blood cells due to their breakdown, and often kidney, heart, and brain dysfunction. Symptoms may include large bruises, fever, weakness, shortness of breath, confusion, and headache. Repeated episodes may occur. In about half of cases a trigger is identified, while in the remainder the cause remains unknown. Known triggers include bacterial infections, certain medications, autoimmune diseases such as lupus, and pregnancy. The underlying mechanism typically involves antibodies inhibiting the enzyme ADAMTS13. This results in decreased break down of large multimers of von Willebrand factor (vWF) into smaller units. Less commonly TTP is inherited from a person's parents, known as Upshaw–Schulman syndrome, such that ADAMTS13 dysfunction is present from birth. Diagnosis is typically based on sym ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thrombotic Microangiopathy
Thrombotic microangiopathy (TMA) is a pathology that results in thrombosis in capillaries and arterioles, due to an endothelial injury. It may be seen in association with thrombocytopenia, anemia, purpura and kidney failure. The classic TMAs are hemolytic uremic syndrome and thrombotic thrombocytopenic purpura. Other conditions with TMA include atypical hemolytic uremic syndrome, disseminated intravascular coagulation, scleroderma renal crisis, malignant hypertension, antiphospholipid antibody syndrome, and drug toxicities, e.g. calcineurin inhibitor toxicity. Signs and symptoms The clinical presentation of TMA, although dependent on the type, typically includes: fever, microangiopathic hemolytic anemia (see schistocytes in a blood smear), kidney failure, thrombocytopenia and neurological manifestations. Generally, renal complications are particularly predominant with Shiga-toxin-associated hemolytic uremic syndrome (STx-HUS) and atypical HUS, whereas neurologic complicatio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
