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Pycnodysostosis
Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", ''dys'' ("defective"), and ''ostosis'' ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. It is also known as PKND and PYCD. History The disease was first described by Maroteaux and Lamy in 1962 at which time it was defined by the following characteristics: dwarfism; osteopetrosis; partial agenesis of the terminal digits of the hands and feet; cranial anomalies, such as persistence of fontanelles and failure of closure of cranial sutures; frontal and occipital bossing; and hypoplasia of the angle of the mandible. The defective gene responsible for the disease was discovered in 1996. The French painter Henri de Toulouse Lautrec (1864-1901) is believed to have had the disease. Signs and symptoms Pycnodysostosis causes the bones to be abnormally dense; the last bones of the fingers (the distal phalanges) to be unusually short; ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cathepsin K
Cathepsin K, abbreviated CTSK, is an enzyme that in humans is encoded by the ''CTSK'' gene. Function The protein encoded by this gene is a cysteine cathepsin, a lysosomal cysteine protease involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is expressed predominantly in osteoclasts. Cathepsin K is a protease, which is defined by its high specificity for kinins, that is involved in bone resorption. The enzyme's ability to catabolize elastin, collagen, and gelatin allows it to break down bone and cartilage. This catabolic activity is also partially responsible for the loss of lung elasticity and recoil in emphysema. Cathepsin K inhibitors show great potential in the treatment of osteoporosis. Cathepsin K is degraded by Cathepsin S, in a process referred to as Controlled Cathepsin Cannibalism. Cathepsin K expression is stimulated by inflammatory cytokines that are released after tissue injury. Clinical significance ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lysosomal Storage Disease
Lysosomal storage diseases (LSDs; ) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective due to a mutation, the large molecules accumulate within the cell, eventually killing it. Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar-containing proteins), or so-called mucopolysaccharides. Individually, lysosomal storage diseases occur with incidences of less than 1:100,000; however, as a group, the incidence is about 1:5,000 – 1:10,000. Most of these disorders are autosomal recessively inherited such as Niemann–Pick disease, type C, but a few are X-linked recessively inherited, su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Wormian Bones
Wormian bones, also known as intrasutural bones or sutural bones, are extra bone pieces that can occur within a suture (joint) in the skull. These are irregular isolated bones that can appear in addition to the usual centres of ossification of the skull and, although unusual, are not rare. They occur most frequently in the course of the lambdoid suture, which is more tortuous than other sutures. They are also occasionally seen within the sagittal and coronal sutures. A large wormian bone at lambda is often called an Inca bone (''os incae''), due to the relatively high frequency of occurrence in Peruvian mummies. Another specific Wormian bone, the pterion ossicle, sometimes exists between the sphenoidal angle of the parietal bone and the great wing of the sphenoid bone. They tend to vary in size and can be found on either side of the skull. Usually, not more than several are found in a single individual, but more than one hundred have been once found in the skull of a hydrocephali ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lysosomal Storage Diseases
Lysosomal storage diseases (LSDs; ) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective due to a mutation, the large molecules accumulate within the cell, eventually killing it. Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar-containing proteins), or so-called mucopolysaccharides. Individually, lysosomal storage diseases occur with incidences of less than 1:100,000; however, as a group, the incidence is about 1:5,000 – 1:10,000. Most of these disorders are autosomal recessively inherited such as Niemann–Pick disease, type C, but a few are X-linked recessively inherited, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Greek Language
Greek ( el, label=Modern Greek, Ελληνικά, Elliniká, ; grc, Ἑλληνική, Hellēnikḗ) is an independent branch of the Indo-European family of languages, native to Greece, Cyprus, southern Italy (Calabria and Salento), southern Albania, and other regions of the Balkans, the Black Sea coast, Asia Minor, and the Eastern Mediterranean. It has the longest documented history of any Indo-European language, spanning at least 3,400 years of written records. Its writing system is the Greek alphabet, which has been used for approximately 2,800 years; previously, Greek was recorded in writing systems such as Linear B and the Cypriot syllabary. The alphabet arose from the Phoenician script and was in turn the basis of the Latin, Cyrillic, Armenian, Coptic, Gothic, and many other writing systems. The Greek language holds a very important place in the history of the Western world. Beginning with the epics of Homer, ancient Greek literature includes many works of lasting impo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction ra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phalanges
The phalanges (singular: ''phalanx'' ) are digital bones in the hands and feet of most vertebrates. In primates, the thumbs and big toes have two phalanges while the other digits have three phalanges. The phalanges are classed as long bones. Structure The phalanges are the bones that make up the fingers of the hand and the toes of the foot. There are 56 phalanges in the human body, with fourteen on each hand and foot. Three phalanges are present on each finger and toe, with the exception of the thumb and large toe, which possess only two. The middle and far phalanges of the fifth toes are often fused together (symphalangism). The phalanges of the hand are commonly known as the finger bones. The phalanges of the foot differ from the hand in that they are often shorter and more compressed, especially in the proximal phalanges, those closest to the torso. A phalanx is named according to whether it is proximal, middle, or distal and its associated finger or toe. The proximal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Suture (anatomy)
In anatomy, a suture is a fairly rigid joint between two or more hard elements of an organism, with or without significant overlap of the elements. Sutures are found in the skeletons or exoskeletons of a wide range of animals, in both invertebrates and vertebrates. Sutures are found in animals with hard parts from the Cambrian period to the present day. Sutures were and are formed by several different methods, and they exist between hard parts that are made from several different materials. Vertebrate skeletons The skeletons of vertebrate animals (fish, amphibians, reptiles, birds, and mammals) are made of bone, in which the main rigid ingredient is calcium phosphate. Cranial sutures The skulls of most vertebrates consist of sets of bony plates held together by cranial sutures. These sutures are held together mainly by Sharpey's fibers which grow from each bone into the adjoining one. Sutures in the ankles of land vertebrates In the type of crurotarsal ankle which is found ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fontanelle
A fontanelle (or fontanel) (colloquially, soft spot) is an anatomical feature of the infant human skull comprising soft membranous gaps ( sutures) between the cranial bones that make up the calvaria of a fetus or an infant. Fontanelles allow for stretching and deformation of the neurocranium both during birth and later as the brain expands faster than the surrounding bone can grow. Premature complete ossification of the sutures is called craniosynostosis. After infancy, the anterior fontanelle is known as the bregma. Structure An infant's skull consists of five main bones: two frontal bones, two parietal bones, and one occipital bone. These are joined by fibrous sutures, which allow movement that facilitates childbirth and brain growth. * Posterior fontanelle is triangle-shaped. It lies at the junction between the sagittal suture and lambdoid suture. At birth, the skull features a small posterior fontanelle with an open area covered by a tough membrane, where the two pariet ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bone Fracture
A bone fracture (abbreviated FRX or Fx, Fx, or #) is a medical condition in which there is a partial or complete break in the continuity of any bone in the body. In more severe cases, the bone may be broken into several fragments, known as a ''comminuted fracture''. A bone fracture may be the result of high force impact or stress, or a minimal trauma injury as a result of certain medical conditions that weaken the bones, such as osteoporosis, osteopenia, bone cancer, or osteogenesis imperfecta, where the fracture is then properly termed a pathologic fracture. Signs and symptoms Although bone tissue contains no pain receptors, a bone fracture is painful for several reasons: * Breaking in the continuity of the periosteum, with or without similar discontinuity in endosteum, as both contain multiple pain receptors. * Edema and hematoma of nearby soft tissues caused by ruptured bone marrow evokes pressure pain. * Involuntary muscle spasms trying to hold bone fragments in place. D ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypodontia
Hypodontia is defined as the developmental absence of one or more teeth excluding the third molars. It is one of the most common dental anomalies, and can have a negative impact on function, and also appearance. It rarely occurs in primary teeth (also known as deciduous, milk, first and baby teeth) and the most commonly affected are the adult second premolars and the upper lateral incisors. It usually occurs as part of a syndrome that involves other abnormalities and requires multidisciplinary treatment. The phenomenon can be subdivided into the following according to the number of teeth concerned: #Hypodontia: one to six missing teeth excluding the third molars #Oligodontia: six or more missing permanent teeth excluding the third molars #Anodontia: complete absence of teeth Signs and symptoms Typically, all baby teeth will be present by the age of three. As for all adult teeth, they erupt between the ages 6 to 14, with the exception of the third molar, also known as the wisd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Scoliosis
Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. The cause of most cases is unknown, but it is believed to involve a combination of genetic and environmental factors. Risk factors include other affected family members. It can also occur due to another condition such as muscle spasms, cerebral palsy, Marfan syndrome, and tumors such as neurofibromatosis. Diagnosis is confirmed with X-rays. Scoliosis is typically classified as either structural in which the curve is fixed, or functional in which the underlying spine is normal. Treatment depends on the degree of curve, location, and cause. Minor curves may simply be watched periodically. Treatme ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
