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Giant Platelet Disorder
Giant platelet disorders, also known as macrothrombocytopenia, are rare disorders featuring abnormally large platelets, thrombocytopenia and a tendency to bleeding. Giant platelets cannot stick adequately to an injured blood vessel walls, resulting in abnormal bleeding when injured. Giant platelet disorder occurs for inherited diseases like Bernard–Soulier syndrome, gray platelet syndrome and May–Hegglin anomaly. Signs and symptoms Symptoms usually present from the period of birth to early childhood as: nose bleeds, bruising, and/or gum bleeding. Problems later in life may arise from anything that can cause internal bleeding such as: stomach ulcers, surgery, trauma, or menstruation. Abnormality of the abdomen, nosebleeds, heavy menstrual bleeding, purpura, too few platelets circulating in the blood, and prolonged bleeding time have also been listed as symptoms of various giant platelet disorders. Genetics Many of the further classifications of giant platelet disorder occu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Light Microscope
The optical microscope, also referred to as a light microscope, is a type of microscope that commonly uses visible light and a system of lenses to generate magnified images of small objects. Optical microscopes are the oldest design of microscope and were possibly invented in their present compound form in the 17th century. Basic optical microscopes can be very simple, although many complex designs aim to improve resolution and sample contrast. The object is placed on a stage and may be directly viewed through one or two eyepieces on the microscope. In high-power microscopes, both eyepieces typically show the same image, but with a stereo microscope, slightly different images are used to create a 3-D effect. A camera is typically used to capture the image (micrograph). The sample can be lit in a variety of ways. Transparent objects can be lit from below and solid objects can be lit with light coming through ( bright field) or around (dark field) the objective lens. Polarised ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glycoprotein
Glycoproteins are proteins which contain oligosaccharide chains covalently attached to amino acid side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known as glycosylation. Secreted extracellular proteins are often glycosylated. In proteins that have segments extending extracellularly, the extracellular segments are also often glycosylated. Glycoproteins are also often important integral membrane proteins, where they play a role in cell–cell interactions. It is important to distinguish endoplasmic reticulum-based glycosylation of the secretory system from reversible cytosolic-nuclear glycosylation. Glycoproteins of the cytosol and nucleus can be modified through the reversible addition of a single GlcNAc residue that is considered reciprocal to phosphorylation and the functions of these are likely to be an additional regulatory mechanism that controls phosphorylation-based signalling. In contrast, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Diseases
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, an orphan disease is a rare disease whose rarity means there is a lack of a market large enough to gain support and resources for discovering treatments for it, except by the government granting economically advantageous conditions to creating and selling such treatments. Orphan drugs are ones so created or sold. Most rare diseases are genetic and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. With only four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the rarest known genetic disease. No single cut-off number has been agreed upon for which a disease is considered rare. A disease may be considered rare in one part of the world, or in a particular gro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Harris Platelet Syndrome
Harris platelet syndrome (HPS) is the most common inherited giant platelet disorder. Presentation HPS was identified among healthy blood donors in the north-eastern part of the Indian subcontinent, characterized by absent bleeding symptoms, mild to severe thrombocytopenia (platelets rarely < 50 × 109/L) with giant platelets (Mean platelet volume 10fL) and normal platelet aggregation studies with absent mutation. In the blood donors with HPS authors found a statistically higher MPV, RDW and a lower platelet count and platelet biomass. Diagnosis At present the diagnosis of HPS is made by ascertaining the ethnicity of the patient, as well as assessing for conditions causing acquired thrombocytopenias, and after also excluding the known inherited giant platelet dis ...[...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mediterranean Macrothrombocytopenia
The Mediterranean Sea is a sea connected to the Atlantic Ocean, surrounded by the Mediterranean Basin and almost completely enclosed by land: on the north by Western and Southern Europe and Anatolia, on the south by North Africa, and on the east by the Levant. The Sea has played a central role in the history of Western civilization. Geological evidence indicates that around 5.9 million years ago, the Mediterranean was cut off from the Atlantic and was partly or completely desiccated over a period of some 600,000 years during the Messinian salinity crisis before being refilled by the Zanclean flood about 5.3 million years ago. The Mediterranean Sea covers an area of about , representing 0.7% of the global ocean surface, but its connection to the Atlantic via the Strait of Gibraltar—the narrow strait that connects the Atlantic Ocean to the Mediterranean Sea and separates the Iberian Peninsula in Europe from Morocco in Africa—is only wide. The Mediterranean Sea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fechtner Syndrome
Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions, macrothrombocytopenia,cause by mutation in the MYH9 gene on chromosome 22q11 AbstractThis study reports a family comprising four generations in whom nephritis, deafness, congenital cataracts, macrothrombocytopenia, and leukocyte inclusions were observed in varying combinations in eight of 17 members. The family differs from others reported in that their hematologic abnormalities include not only macrothrombocytopenia, but also small, pale blue cytoplasmic inclusions in the neutrophils and eosinophils. Light microscopic appearance of the inclusions resembled that of toxic Döhle bodies and inclusions of May–Hegglin anomaly, but their ultrastructural appearance was unique. The inclusions consisted of clusters of ribosomes and small segments of rough endoplasmic reticulum (RER). They lacked the parallel 10-nm filaments characteristic of May-Hegglin anomaly and the parallel strands of RER seen i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epstein Syndrome
Epstein syndrome is a rare genetic disease characterized by a mutation in the MYH9 gene in nonmuscle myosin. This disease affects the patient's renal system and can result in kidney failure. Epstein Syndrome was first discovered in 1972 when two families had similar symptoms to Alport syndrome. Epstein syndrome and other Alport-like disorders were seen to be caused by mutations in the MYH9 (myosin heavy chain 9) gene, however, Epstein syndrome differs as it was more specifically linked to a mutation on the R702 codon on the MYH9 gene. Diseases with mutations on the MYH9 gene also include May–Hegglin anomaly, Sebastian syndrome and Fechtner syndrome. Signs and symptoms Initial symptoms are often described as bleeding tendency and thrombocytopenia. Bleeding tendency may be observed in epistaxis and purpura. Other symptoms may include macrothrombocytopenia, proteinuria, nephropathy, sensorineural hearing loss, low platelet count, oral lesions and cataracts. The most common s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hereditary Macrothrombocytopenia
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics. Overview In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. The complete set of observable traits of the structure and behavior of an organism is called its phenotype. These traits arise from the interaction of its genotype with the environment. As a result, many aspects of an organism's phenotype are not inherited. For example, suntanned ski ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sebastian Syndrome
Sebastian may refer to: People * Sebastian (name), including a list of persons with the name Arts, entertainment, and media Films and television * ''Sebastian'' (1968 film), British spy film * ''Sebastian'' (1995 film), Swedish drama film * ''Sebastian'' (2017 film) * ''Belle and Sebastian'' (Japanese TV series), a 1981 anime series based on the 1965 novel * '' Sebastian Star Bear: First Mission'', a Dutch animated film released in 1991 * ''Sebastiane'' (1976 film), 1976 Derek Jarman film in Latin about the saint Literature * ''Sebastian'' (Bishop novel), the first novel of the ''Landscapes of Ephemera'' duology written by Anne Bishop * ''Sebastian'' (Durrell novel), the fourth volume in ''The Avignon Quintet'' series by Lawrence Durrell * '' Belle et Sébastien'', a 1965 novel and live action TV series written by Cécile Aubry * "Sebastian, or, Virtue Rewarded", the name of an unpublished poem written around 1815 by the 9-year-old Elizabeth Barrett, later famous as E ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alpha Granule
Alpha granules, (α-granules) also known as platelet alpha-granules are a cellular component of platelets. Platelets contain different types of granules that perform different functions, and include alpha granules, dense granules, and lysosomes. Of these, alpha granules are the most common, making up between 50% to 80% of the secretory granules. Alpha granules contain several growth factors. Contents Contents include insulin-like growth factor 1, platelet-derived growth factors, TGF beta, platelet factor 4 (which is a heparin-binding chemokine) and other clotting proteins (such as thrombospondin, fibronectin, factor V, and von Willebrand factor). The alpha granules express the adhesion molecule P-selectin and CD63. These are transferred to the membrane after synthesis. The other type of granules within platelets are called dense granules. Clinical significance A deficiency of alpha granules is known as gray platelet syndrome Gray platelet syndrome (GPS), or platelet alpha-gran ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Montreal Platelet Syndrome
Montreal ( ; officially Montréal, ) is the second-most populous city in Canada and most populous city in the Canadian province of Quebec. Founded in 1642 as '' Ville-Marie'', or "City of Mary", it is named after Mount Royal, the triple-peaked hill around which the early city of Ville-Marie is built. The city is centred on the Island of Montreal, which obtained its name from the same origin as the city, and a few much smaller peripheral islands, the largest of which is Île Bizard. The city is east of the national capital Ottawa, and southwest of the provincial capital, Quebec City. As of 2021, the city had a population of 1,762,949, and a metropolitan population of 4,291,732, making it the second-largest city, and second-largest metropolitan area in Canada. French is the city's official language. In 2021, it was spoken at home by 59.1% of the population and 69.2% in the Montreal Census Metropolitan Area. Overall, 85.7% of the population of the city of Montreal consid ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Calpain
A calpain (; , ) is a protein belonging to the family of calcium-dependent, non-lysosomal cysteine proteases (protease, proteolytic enzymes) expressed ubiquitously in mammals and many other organisms. Calpains constitute the C2 family of protease clan CA in the MEROPS database. The calpain proteolytic system includes the calpain proteases, the small regulatory subunit CAPNS1, also known as CAPN4, and the endogenous calpain-specific inhibitor, calpastatin. Discovery The history of calpain's discovery originates in 1964, when calcium-dependent proteolytic activities caused by a "calcium-activated neutral protease" (CANP) were detected in brain, lens of the eye and other tissue (biology), tissues. In the late 1960s the enzymes were isolated and characterised independently in both rat brain and skeletal muscle. These activities were caused by an intracellular cysteine protease not associated with the lysosome and having an optimum activity at neutral pH, which clearly distinguishe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
