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Otodental Syndrome
Otodental syndrome, also known as otodental dysplasia, is an exceptionally rare disease that is distinguished by a specific phenotype known as globodontia, that in rare cases can be associated with eye coloboma and high frequency hearing loss. Globodontia is an abnormal condition that can occur in both the primary and secondary dentition, except for the incisors which are normal in shape and size. This is demonstrated by significant enlargement of the canine and molar teeth. The premolars are either reduced in size or are absent.Chen, Ren-Jye, Horng-Sen Chen, Li-Min Lin, Cheng-Chung Lin, and Ronald J. Jorgenson. "“Otodental” Dysplasia." Oral Surgery, Oral Medicine, Oral Pathology 66.3 (1988): 353-58 In some cases, the defects affecting the teeth, eye and ear can be either individual or combined.Gregory-Evans, C. Y., M. Moosajee, M. D. Hodges, D. S. Mackay, L. Game, N. Vargesson, A. Bloch-Zupan, F. Ruschendorf, L. Santos-Pinto, G. Wackens, and K. Gregory-Evans. "SNP Genome Scann ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coloboma
A coloboma (from the Greek , meaning defect) is a hole in one of the structures of the eye, such as the iris, retina, choroid, or optic disc. The hole is present from birth and can be caused when a gap called the choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born. Ocular coloboma is relatively uncommon, affecting less than one in every 10,000 births. The classical description in medical literature is of a keyhole-shaped defect. A coloboma can occur in one eye (unilateral) or both eyes (bilateral). Most cases of coloboma affect only the iris. The level of vision impairment of those with a coloboma can range from having no vision problems to being able to see only light or dark, depending on the position and extent of the coloboma (or colobomata if more than one is present). Signs and symptoms Visual effects may be mild to more severe depending on the size and location of the coloboma. If, for exampl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FADD
FAS-associated death domain protein, also called MORT1, is encoded by the ''FADD'' gene on the 11q13.3 region of chromosome 11 in humans. FADD is an adaptor protein that bridges members of the tumor necrosis factor receptor superfamily, such as the Fas-receptor, to procaspases 8 and 10 to form the death-inducing signaling complex (DISC) during apoptosis. As well as its most well known role in apoptosis, FADD has also been seen to play a role in other processes including proliferation, cell cycle regulation and development. Structure FADD is a 23 kDa protein, made up of 208 amino acids. It contains two main domains: a C terminal death domain (DD) and an N terminal death effector domain (DED). Each domain, although sharing very little sequence similarity, are structurally similar to one another, with each consisting of 6 α helices. The DD of FADD binds to receptors such as the Fas receptor at the plasma membrane via their DD. The interaction between the death domains are ele ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dental Pulp
The pulp is the connective tissue, nerves, blood vessels, and odontoblasts that comprise the innermost layer of a tooth. The pulp's activity and signalling processes regulate its behaviour. Anatomy The pulp is the neurovascular bundle central to each tooth, permanent or primary. It is composed of a central pulp chamber, pulp horns, and radicular canals. The large mass of the pulp is contained within the pulp chamber, which is contained in and mimics the overall shape of the crown of the tooth.Illustrated Dental Embryology, Histology, and Anatomy, Bath-Balogh and Fehrenbach, Elsevier, 2011, page 164. Because of the continuous deposition of the dentine, the pulp chamber becomes smaller with the age. This is not uniform throughout the coronal pulp but progresses faster on the floor than on the roof or sidewalls. Radicular pulp canals extend down from the cervical region of the crown to the root apex. They are not always straight but vary in shape, size, and number. They are c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endodontist
Endodontics (from the Greek roots ''endo-'' "inside" and ''odont-'' "tooth") is the dental specialty concerned with the study and treatment of the dental pulp. Overview Endodontics encompasses the study (practice) of the basic and clinical sciences of normal dental pulp, the etiology, diagnosis, prevention, and treatment of diseases and injuries of the dental pulp along with associated periradicular conditions. In clinical terms, endodontics involves either preserving part, or all of the dental pulp in health, or removing all of the pulp in irreversible disease. This includes teeth with irreversibly inflamed and infected pulpal tissue. Not only does endodontics involve treatment when a dental pulp is present, but also includes preserving teeth which have failed to respond to non-surgical endodontic treatment, or for teeth that have developed new lesions, e.g., when root canal re-treatment is required, or periradicular surgery. Endodontic treatment is one of the most co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oral Hygiene
Oral hygiene is the practice of keeping one's mouth clean and free of disease and other problems (e.g. bad breath) by regular brushing of the teeth (dental hygiene) and cleaning between the teeth. It is important that oral hygiene be carried out on a regular basis to enable prevention of dental disease and bad breath. The most common types of dental disease are tooth decay (''cavities'', ''dental caries'') and gum diseases, including gingivitis, and periodontitis. General guidelines for adults suggest brushing at least twice a day with a fluoridated toothpaste: brushing last thing at night and at least on one other occasion. Cleaning between the teeth is called interdental cleaning and is as important as tooth brushing. This is because a toothbrush cannot reach between the teeth and therefore only removes about 50% of plaque from the surface of the teeth. There are many tools to clean between the teeth, including floss, tape and interdental brushes; it is up to each indiv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Osteopetrosis
Osteopetrosis, literally "stone bone", also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis can cause bones to dissolve and break. It is one of the hereditary causes of osteosclerosis. It is considered to be the prototype of osteosclerosing dysplasias. The cause of the disease is understood to be malfunctioning osteoclasts and their inability to resorb bone. Although human osteopetrosis is a heterogeneous disorder encompassing different molecular lesions and a range of clinical features, all forms share a single pathogenic nexus in the osteoclast. The exact molecular defects or location of the mutations taking place are unknown. Osteopetrosis was first described in 1903, by German radiologist Albers-Schönberg. Sig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Achondrodysplasia
Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. In those with the condition, the arms and legs are short, while the torso is typically of normal length. Those affected have an average adult height of for males and for females. Other features can include an enlarged head and prominent forehead. Complications can include sleep apnea or recurrent ear infections. Achondroplasia includes short-limb skeletal dysplasia with severe combined immunodeficiency. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (''FGFR3'') gene that results in its protein being overactive. Achondroplasia results in impaired endochondral bone growth (bone growth within cartilage). The disorder has an autosomal dominant mode of inheritance, meaning only one mutated copy of the gene is required for the condition to occur. About 80% of cases occur in children of parents of average stature and result ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hearing Tests
A hearing test provides an evaluation of the sensitivity of a person's sense of hearing and is most often performed by an audiologist using an audiometer. An audiometer is used to determine a person's hearing sensitivity at different frequencies. There are other hearing tests as well, e.g., Weber test and Rinne test. Ear examination Prior to the hearing test, the ears of the patient are usually examined with an otoscope to make sure they are free of wax, that the eardrum is intact, the ears are not infected, and the middle ear is free of fluid (indicating middle ear infection). Pure tone audiometry The standard and most common type of hearing test is pure tone audiometry, which measures the air and bone conduction thresholds for each ear in a set of 8 standard frequencies from 250Hz to 8000Hz. The test is conducted in a sound booth using either a pair of foam inserts or supraural headphones connected to an external audiometer. The result of the test is an audiogram diagram which ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ear Infection
Otitis is a general term for inflammation or infection, inner ear infection, middle ear infection of the ear, in both humans and other animals. When infection is present, it may be viral or bacterial. When inflammation is present due to fluid build up in the middle ear and infection is not present it is considereOtitis media with effusion It is subdivided into the following: * ''Otitis externa'', external otitis, or "swimmer's ear", involves the outer ear and ear canal. In external otitis, we see tenderness in the pinna—i.e., the outer ear hurts when touched or pulled. * ''Otitis media'', or middle ear infection, involves the middle ear. In otitis media, the ear is infected or clogged with fluid behind the ear drum, in the normally air-filled middle-ear space. This is the most common infection and very common in babies below 6 months. This condition sometimes requires a surgical procedure called ''myringotomy'' and tube insertion. * ''Otitis interna'', or labyrinthitis, involve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breedin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radiograph
Radiography is an imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical radiography ("diagnostic" and "therapeutic") and industrial radiography. Similar techniques are used in airport security (where "body scanners" generally use backscatter X-ray). To create an image in conventional radiography, a beam of X-rays is produced by an X-ray generator and is projected toward the object. A certain amount of the X-rays or other radiation is absorbed by the object, dependent on the object's density and structural composition. The X-rays that pass through the object are captured behind the object by a detector (either photographic film or a digital detector). The generation of flat two dimensional images by this technique is called projectional radiography. In computed tomography (CT scanning) an X-ray source and its associated detectors rotate around the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
