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Hereditary Angioedema
Hereditary angioedema (HAE) is a disorder that results in recurrent attacks of severe swelling. The swelling most commonly affects the arms, legs, face, intestinal tract, and airway. If the intestinal tract is affected, abdominal pain and vomiting may occur. Swelling of the airway can result in its obstruction and trouble breathing. Without preventive treatment, attacks typically occur every two weeks and last for a few days. There are three main types of HAE. Types I and II are caused by a mutation in the '' SERPING1'' gene, which encodes the C1 inhibitor protein, and type III now called HAE with Normal C1 esterase(HAE nl C1). Six known mutations are described in the literature under the type 3 HAE. The result is increased levels of bradykinin, which promotes swelling. The condition may be inherited in an autosomal dominant manner or occur as a new mutation. Triggers for an attack may include minor trauma or stress, but attacks often occur without any obvious preceding even ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hematology
Hematology (American and British English spelling differences#ae and oe, spelled haematology in British English) is the branch of medicine concerned with the study of the cause, prognosis, treatment, and prevention of diseases related to blood. It involves treating diseases that affect the production of blood and its components, such as blood cells, hemoglobin, blood proteins, bone marrow, platelets, blood vessels, spleen, and the mechanism of coagulation. Such diseases might include hemophilia, sickle cell anemia, blood clots (thrombus), other bleeding disorders, and blood cancers such as leukemia, multiple myeloma, and lymphoma. The laboratory analysis of blood is frequently performed by a medical technologist or medical laboratory scientist. Specialization Physicians specialized in hematology are known as hematologists or haematologists. Their routine work mainly includes the care and treatment of patients with hematological diseases, although some may also work at the hema ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intravenous Fluids
Intravenous therapy (abbreviated as IV therapy) is a medical technique that administers fluids, medications and nutrients directly into a person's vein. The intravenous route of administration is commonly used for rehydration or to provide nutrients for those who cannot, or will not—due to reduced mental states or otherwise—consume food or water per os, by mouth. It may also be used to administer pharmaceutical drug, medications or other medical therapy such as blood transfusion, blood products or electrolytes to correct electrolyte imbalances. Attempts at providing intravenous therapy have been recorded as early as the 1400s, but the practice did not become widespread until the 1900s after the development of techniques for safe, effective use. The intravenous route is the fastest way to deliver medications and fluid replacement throughout the body as they are introduced directly into the circulatory system and thus quickly distributed. For this reason, the intravenous route ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plasminogen
Plasmin is an important enzyme () present in blood that degrades many blood plasma proteins, including fibrin clots. The degradation of fibrin is termed fibrinolysis. In humans, the plasmin protein (in the zymogen form of plasminogen) is encoded by the ''PLG'' gene. Function Plasmin is a serine protease that acts to dissolve fibrin blood clots. Apart from fibrinolysis, plasmin proteolyses proteins in various other systems: It activates collagenases, some mediators of the complement system, and weakens the wall of the Graafian follicle, leading to ovulation. Plasmin is also integrally involved in inflammation. It cleaves fibrin, fibronectin, thrombospondin, laminin, and von Willebrand factor. Plasmin, like trypsin, belongs to the family of serine proteases. Plasmin is released as a zymogen called plasminogen (PLG) from the liver into the systemic circulation. Two major glycoforms of plasminogen are present in humans - type I plasminogen contains two glycosyla ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Angiopoietin 1
Angiopoietin 1 is a type of angiopoietin and is encoded by the gene ANGPT1. Angiopoietins are proteins with important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. During pregnancy, angiopoietins act complementary to the VEGF system and contribute to endothelial cell survival and the remodeling of vessels. Few studies have examined the role of angiopoietins in human pregnancy complications like preeclampsia and intrauterine growth restriction (IUGR). A knockout model of ANGPT1 was introduced in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Factor XII
Coagulation factor XII, also known as Hageman factor, is a plasma protein involved in coagulation. It is the zymogen form of factor XIIa (), an enzyme of the serine protease (or serine endopeptidase) class. In humans, factor XII is encoded by ''F12'' gene. Genetics The gene for factor XII is located on the tip of the long arm of the fifth chromosome (5q33-qter). Structure Human Factor XII is 596 amino acids long and consists of two chains, the heavy chain (353 residues) and light chain (243 residues) held together by a disulfide bond. It is 80,000 daltons in molecular weight. The heavy chain contains two fibronectin-type domains (type I and II), two epidermal growth factor-like domains, a kringle domain, and a proline-rich region, while the light chain contains the protease domain. FXII can be cleaved sequentially at two sites, Arg353 and Arg334, with the second cleavage liberating the light chain and forming β-FXIIa. The structure of the FnI-EGF-like tandem domain ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
De Novo Mutations
A de novo mutation (DNM) is any mutation or alteration in the genome of an individual organism (human, animal, plant, microbe, etc.) that was not inherited from its parents. This type of mutation spontaneously occurs during the process of DNA replication during cell division. De novo mutations, by definition, are present in the affected individual but absent from both biological parents' genomes. A de novo mutation can arise in a sperm or egg cell and become a germline mutation, or after fertilization as a post-zygotic mutation that cannot be inherited by offspring. These mutations can occur in any cell of the offspring, but those in the germ line (eggs or sperm) can be passed on to the next generation. In most cases, such a mutation has little or no effect on the affected organism due to the redundancy and robustness of the genetic code. However, in rare cases, it can have notable and serious effects on overall health, physical appearance, and other traits. Disorders that most co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation that exhibit clinical Symptom, symptoms among all individuals with such mutation. For example: If a mutation in the gene responsible for a particular autosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will go on to develop the disease, showing its phenotype, whereas 5% will not. Penetrance only refers to whether an individual with a specific genotype exhibits any phenotypic signs or symptoms, and is not to be confused with Expressivity (genetics), variable expressivity which is to what extent or degree the symptoms for said disease are shown (the expression of the phenotypic trait). Meaning that, even if the same disease-causing mutation affects separate individ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urticaria
Hives, also known as urticaria, is a kind of skin rash with red or flesh-colored, raised, itchy bumps. Hives may burn or sting. The patches of rash may appear on different body parts, with variable duration from minutes to days, and typically do not leave any long-lasting skin change. Fewer than 5% of cases last for more than six weeks (a condition known as chronic urticaria). The condition frequently recurs. Hives frequently occur following an infection or as a result of an allergic reaction such as to medication, insect bites, or food. Psychological stress, cold temperature, or vibration may also be a trigger. In half of cases the cause remains unknown. Risk factors include having conditions such as hay fever or asthma. Diagnosis is typically based on appearance. Patch testing may be useful to determine the allergy. Prevention is by avoiding whatever it is that causes the condition. Treatment is typically with antihistamines, with the second generation antihistamines suc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Erythema Marginatum
Erythema marginatum (also known as chicken wire erythema) is an acquired skin condition which primarily affects the arms, trunk, and legs. It is a type of erythema (redness of the skin or mucous membranes) characterised by bright pink or red circular lesions which have sharply-defined borders and faint central clearing. The lesions typically range from 3 to 10 cm in size, and are distributed symmetrically over the torso and inner surfaces of the limbs and extensor surfaces. The lesions usually last for a few hours to a few days and may reappear over the subsequent weeks. The condition was first reported in 1816 by Jean Cruveilhier and is thought to be linked to other skin conditions such as urticaria and systemic lupus erythematosus. An association with bradykinin has been proposed in the case of hereditary angioedema. Presentation The rings are barely raised and are non- itchy. The face is generally spared. The condition is characterised by circular, non-pruritic, erythe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prodromal
In medicine, a prodrome is an early Medical sign, sign or symptom (or set of signs and symptoms, referred to as prodromal symptoms) that often indicates the onset of a disease before more diagnostically specific signs and symptoms develop. More specifically, it refers to the period between the first recognition of a disease's symptom until it reaches its more severe form. It is derived from the Greek word ''prodromos'', meaning "running before". Prodromes may be non-specific symptoms or, in a few instances, may clearly indicate a particular disease, such as the prodromal migraine aura. For example, fever, malaise, headache and lack of appetite frequently occur in the prodrome of many Infection, infective disorders. A prodrome can be the early precursor to an episode of a chronic neurological disorder such as a migraine headache or an epileptic seizure, where prodrome symptoms may include euphoria or other changes in mood (psychology), mood, insomnia, abdominal aura, abdominal sensat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gi Tract
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 tract is the largest of the body's systems, after the cardiovascular system. 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 gast ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Larynx
The larynx (), commonly called the voice box, is an organ (anatomy), organ in the top of the neck involved in breathing, producing sound and protecting the trachea against food aspiration. The opening of larynx into pharynx known as the laryngeal inlet is about 4–5 centimeters in diameter. The larynx houses the vocal cords, and manipulates pitch (music), pitch and sound pressure, volume, which is essential for phonation. It is situated just below where the tract of the pharynx splits into the trachea and the esophagus. The word 'larynx' (: larynges) comes from the Ancient Greek word ''lárunx'' ʻlarynx, gullet, throatʼ. Structure The triangle-shaped larynx consists largely of cartilages that are attached to one another, and to surrounding structures, by muscles or by fibrous and elastic tissue components. The larynx is lined by a respiratory epithelium, ciliated columnar epithelium except for the vocal folds. The laryngeal cavity, cavity of the larynx extends from its tria ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
