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Van Buchem Disease
Van Buchem disease, or hyperostosis corticalis generalisata, is an autosomal recessive skeletal disease which is characterised by uninhibited bone growth, especially in the mandible, skull and ribs. The disease was first described in 1955 by Frans van Buchem, when describing two patients of the same family in Urk in the Netherlands. The cause, he found, was that the bone was produced faster than the body broke it down, making it much thicker as the patient got older. The first symptoms experienced by the affected were often deafness and paralysis of the face, caused by the growing bone pinching the nerves. This condition can be traced to a deletion on chromosome 17q. As the disease is recessive, a child will only be affected by the disease if both of the parents are carriers and the child is homozygous for the allele, meaning that they have the allele in duplicate. The gene involved is SOST, and by extension the protein involved is sclerostin. There have been attempts to relieve a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Craniotomy
A craniotomy is a surgery, surgical operation in which a bone flap is temporarily removed from the Human skull, skull to access the Human brain, brain. Craniotomies are often critical operations, performed on patients who are suffering from brain lesions, such as tumors, blood clots, removal of foreign bodies such as bullets, or traumatic brain injury, and can also allow doctors to surgically implant devices, such as deep brain stimulation, deep brain stimulators for the treatment of Parkinson's disease, epilepsy, and cerebellar tremor. The procedure is also used in epilepsy surgery to remove the parts of the brain that are causing epilepsy. Craniotomy is distinguished from craniectomy (in which the skull flap is not immediately replaced, allowing the brain to swell, thus reducing intracranial pressure) and from trepanation, the creation of a burr hole through the cranium into the dura mater. Procedure Human craniotomy is usually performed under general anesthesia but can be also ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skeletal Disorders
Bone disease refers to the medical conditions which affect the bone. Terminology A bone disease is also called an "osteopathy", but because the term osteopathy is often used to refer to an alternative health-care philosophy, use of the term can cause some confusion. Bone and cartilage disorders Osteochondrodysplasia is a general term for a disorder of the development of bone and cartilage. List A * Ambe * Avascular necrosis or Osteonecrosis * Arthritis B * Bone spur (Osteophytes) C * Craniosynostosis * Coffin–Lowry syndrome * Copenhagen disease F * Fibrodysplasia ossificans progressiva * Fibrous dysplasia * Fong disease (or Nail–patella syndrome) * Fracture G * Giant cell tumor of bone * Greenstick fracture * Gout H * Hypophosphatasia * Hereditary multiple exostoses K * Klippel–Feil syndrome M * Metabolic bone disease * Multiple myeloma N * Nail–patella syndrome O * Osteitis * Osteitis deformans (or Paget's disease of bone) * Ost ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Worth Syndrome
Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease, is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene. It is characterized by increased bone density and benign bony structures on the palate. Causes Worth syndrome is caused by a mutation in the LRP5 gene, located on human chromosome 11q13.4. The disorder is inherited in an autosomal dominant fashion. This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 11 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. Diagnosis Treatment History The condition was first reported by H. M. Worth in 1966. In 1977, two doctors, R.J. Gorlin and L. Glass, distinguished the syndrome from van Buchem disease. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sclerosteosis
Sclerosteosis is an autosomal recessive disorder characterized by bone overgrowth. It was first described in 1958 but given the current name in 1967. Excessive bone formation is most prominent in the skull, mandible and tubular bones. It can cause facial distortion and syndactyly. Increased intracranial pressure can cause sudden death in patients. It is a rare disorder that is most prominent in the Afrikaner population in South Africa (40 patients), but there have also been cases of American and Brazilian families. Cause Sclerosteosis is caused by mutations in the SOST gene that encodes the sclerostin protein. The sclerostin protein is necessary in inhibiting the Wnt signaling pathway. Wnt signalling results in increased osteoblast activity and RANKL synthesis. Sclerostin therefore increases bone formation by indirectly inhibiting RANKL synthesis and thus osteoclast activation. See also * Van Buchem disease References External links "These Superhumans Are Real and Their DNA C ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hereditary Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known genetic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Consanguinity
Consanguinity (from Latin '':wikt: consanguinitas, consanguinitas'' 'blood relationship') is the characteristic of having a kinship with a relative who is descended from a common ancestor. Many jurisdictions have laws prohibiting people who are closely related by blood from Consanguine marriage, marrying or having sexual relations with each other. The degree of relationship, degree of consanguinity that gives rise to this prohibition varies from place to place. On the other hand, around 20% of the global population lives in areas where some consanguinous marriages are preferred. The degree of relationships are also used to determine heirs of an estate according to statutes that govern intestacy, intestate succession, which also vary from jurisdiction to jurisdiction. In some communities and time periods, cousin marriage is allowed or even encouraged; in others, it is taboo, and considered to be incest. The degree of relative consanguinity can be illustrated with a ''consanguinity ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Zuiderzee
The Zuiderzee or Zuider Zee (; old spelling ''Zuyderzee'' or ''Zuyder Zee''), historically called Lake Almere and Lake Flevo, was a shallow bay of the North Sea in the northwest of the Netherlands. It extended about 100 km (60 miles) inland and at most 50 km (30 miles) wide, with an overall depth of about 4 to 5 metres (13–16 feet) and a coastline of about 300 km (200 miles). It covered . Its name is Dutch for "southern sea", indicating that the name originates in Friesland, to the north of the Zuiderzee (cf. North Sea). In the 20th century the majority of the Zuiderzee was closed off from the North Sea by the construction of the Afsluitdijk, leaving the mouth of the inlet to become part of the Wadden Sea. The salt water inlet changed into a fresh water lake now called the IJsselmeer (IJssel Lake) after the river that drains into it, and by means of drainage and polders, an area of some was reclaimed as land. This land eventually became the province of F ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Foramen Magnum
The foramen magnum () is a large, oval-shaped opening in the occipital bone of the skull. It is one of the several oval or circular openings (foramina) in the base of the skull. The spinal cord, an extension of the medulla oblongata, passes through the foramen magnum as it exits the cranial cavity. Apart from the transmission of the medulla oblongata and its membranes, the foramen magnum transmits the vertebral arteries, the anterior and posterior spinal arteries, the tectorial membranes and alar ligaments. It also transmits the accessory nerve into the skull. The foramen magnum is a very important feature in bipedal mammals. One of the attributes of a biped's foramen magnum is a forward shift of the anterior border of the cerebellar tentorium; this is caused by the shortening of the cranial base. Studies on the foramen magnum position have shown a connection to the functional influences of both posture and locomotion. The forward shift of the foramen magnum is apparent in b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sclerostin
Sclerostin is a protein that in humans is encoded by the ''SOST'' gene. It is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Sclerostin is produced primarily by the osteocyte but is also expressed in other tissues, and has anti-anabolic effects on bone formation. Structure The sclerostin protein, with a length of 213 residues, has a secondary structure that has been determined by protein NMR to be 28% beta sheet (6 strands; 32 residues). Function Sclerostin, the product of the SOST gene, located on chromosome 17q12–q21 in humans, was originally believed to be a non-classical bone morphogenetic protein (BMP) antagonist. More recently, sclerostin has been identified as binding to LRP5/ 6 receptors and inhibiting the Wnt signaling pathway. The inhibition of the Wnt pathway leads to decrea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mandible
In jawed vertebrates, the mandible (from the Latin ''mandibula'', 'for chewing'), lower jaw, or jawbone is a bone that makes up the lowerand typically more mobilecomponent of the mouth (the upper jaw being known as the maxilla). The jawbone is the skull's only movable, posable bone, sharing Temporomandibular joint, joints with the cranium's temporal bones. The mandible hosts the lower Human tooth, teeth (their depth delineated by the alveolar process). Many muscles attach to the bone, which also hosts nerves (some connecting to the teeth) and blood vessels. Amongst other functions, the jawbone is essential for chewing food. Owing to the Neolithic Revolution, Neolithic advent of agriculture (), human jaws evolved to be Human jaw shrinkage, smaller. Although it is the strongest bone of the facial skeleton, the mandible tends to deform in old age; it is also subject to Mandibular fracture, fracturing. Surgery allows for the removal of jawbone fragments (or its entirety) as well a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOST
Sclerostin is a protein that in humans is encoded by the ''SOST'' gene. It is a secreted glycoprotein with a C-terminus, C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the PARN, DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Sclerostin is produced primarily by the osteocyte but is also expressed in other tissues, and has anti-anabolic effects on bone formation. Structure The sclerostin protein, with a length of 213 residues, has a secondary structure that has been determined by Nuclear magnetic resonance spectroscopy of proteins, protein NMR to be 28% beta sheet (6 strands; 32 residues). Function Sclerostin, the product of the SOST gene, located on chromosome 17q12–q21 in humans, was originally believed to be a non-classical bone morphogenetic protein (BMP) antagonist. More recently, sclerostin has been identified as binding to LRP5/LRP6, 6 receptors and inhibiting the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
