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Marshall Syndrome
Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss. The three most common areas to be affected are the eyes which are uncommonly large, joints and the mouth and facial structures. Marshall syndrome and Stickler syndrome closely resemble each other; in fact they are so similar, some say they are the same. Presentation Eyes Myopia is the most common eye problem in Marshall syndrome. Cataracts also occur more frequently and detached retina less frequently than in Stickler syndrome. Myopia also is the most common problem with the eyes in Stickler syndrome. In the latter syndrome, extreme myopia may lead to severe eye problems such as detached retina more frequently than in Marshall syndrome. Joints The joint changes include hyperextensibility (double-jointedness) and arthritis. Babies and young children with Stickler syndrome usually have very hyperextensible joints. As an affected child gets older, they may experience pain and stiffness f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having 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 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 copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tongue
The tongue is a muscular organ (anatomy), organ in the mouth of a typical tetrapod. It manipulates food for mastication and swallowing as part of the digestive system, digestive process, and is the primary organ of taste. The tongue's upper surface (dorsum) is covered by taste buds housed in numerous lingual papillae. It is sensitive and kept moist by saliva and is richly supplied with nerves and blood vessels. The tongue also serves as a natural means of oral hygiene, cleaning the teeth. A major function of the tongue is the enabling of speech in humans and animal communication, vocalization in other animals. The human tongue is divided into two parts, an oral cavity, oral part at the front and a pharynx, pharyngeal part at the back. The left and right sides are also separated along most of its length by a vertical section of connective tissue, fibrous tissue (the lingual septum) that results in a groove, the median sulcus, on the tongue's surface. There are two groups of muscle ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Reactive Neutrophilic Cutaneous Conditions
Reactive may refer to: *Generally, capable of having a reaction (other) *An adjective abbreviation denoting a bowling ball coverstock made of reactive resin *Reactivity (chemistry) *Reactive mind *Reactive programming See also *Reactance (other) Reactance may refer to: * Electrical reactance, the opposition to a change in voltage due to capacitance (capacitive reactance) or in current due to inductance (inductive reactance); the imaginary component of AC impedance * Magnetic reactance, a s ... * Reactivity (other) {{disambig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Contact Sports
Contact sports are sports that emphasize or require physical contact between players. Some sports, such as mixed martial arts, are scored on impacting an opponent, while others, including rugby football, gridiron football and Australian rules football, require tackling of players. These sports are often known as full-contact, as the sport cannot be undertaken without contact. Some sports, such as baseball and kho-kho, only allow physical contact in the form of tagging (lightly touching) opponents. Some contact sports have non-contact variations (such as flag football for American football) which replace tackling and other forms of contact with alternative methods of interacting with an opponent, such as removing a flag from a belt worn by the opponent. Other sports may have contact, but such events are illegal under the rules of the game and are incidental or accidental and do not form part of the sport. It can also include impact via a piece of sporting equipment, such as being ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eye Care Professional
An eye care professional (ECP) is an individual who provides a service related to the eyes or vision. It is any healthcare worker involved in eye care, from one with a small amount of post-secondary training to practitioners with a doctoral level of education. Types Ophthalmologist Ophthalmologists are Doctors of Medicine (M.D./D.O.)(physicians) who specialize in eye care - this includes optical, medical and surgical eye care. They have a general medical degree, not a degree in eye care specifically.” In the US, this usually includes four years of college, four years of medical school, one year surgical internship and three years of eye specific training (ophthalmology residency). Some surgeons complete additional training (fellowship) in specific areas of the eye. Ophthalmologists are qualified to manage any eye disease, perform invasive eye surgery (including injections) and provide general medical care (non eye related) also. While Ophthalmologists can provide comprehensiv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ophthalmologist
Ophthalmology ( ) is a surgery, surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Following a medical degree, a doctor specialising in ophthalmology must pursue additional postgraduate residency (medicine), residency training specific to that field. This may include a one-year integrated internship that involves more general medical training in other fields such as internal medicine or general surgery. Following residency, additional specialty training (or fellowship) may be sought in a particular aspect of eye pathology. Ophthalmologists prescribe medications to treat eye diseases, implement laser therapy, and perform surgery when needed. Ophthalmologists provide both primary and specialty eye care - medical and surgical. Most ophthalmologists participate in academic research on eye diseases at some point in their training an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hearing (sense)
Hearing, or auditory perception, is the ability to perceive sounds through an organ, such as an ear, by detecting vibrations as periodic changes in the pressure of a surrounding medium. The academic field concerned with hearing is auditory science. Sound may be heard through solid, liquid, or gaseous matter. It is one of the traditional five senses. Partial or total inability to hear is called hearing loss. In humans and other vertebrates, hearing is performed primarily by the auditory system: mechanical waves, known as vibrations, are detected by the ear and transduced into nerve impulses that are perceived by the brain (primarily in the temporal lobe). Like touch, audition requires sensitivity to the movement of molecules in the world outside the organism. Both hearing and touch are types of mechanosensation. Hearing mechanism There are three main components of the human auditory system: the outer ear, the middle ear, and the inner ear. Outer ear The outer ear in ... [...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 breeding, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Biological Parent
A parent is a caregiver of the offspring in their own species. In humans, a parent is the caretaker of a child (where "child" refers to offspring, not necessarily age). A ''biological parent'' is a person whose gamete resulted in a child, a male through the sperm, and a female through the ovum. Biological parents are first-degree relatives and have 50% genetic meet. A female can also become a parent through surrogacy. Some parents may be adoptive parents, who nurture and raise an offspring, but are not biologically related to the child. Orphans without adoptive parents can be raised by their grandparents or other family members. A parent can also be elaborated as an ancestor removed one generation. With recent medical advances, it is possible to have more than two biological parents. Examples of third biological parents include instances involving surrogacy or a third person who has provided DNA samples during an assisted reproductive procedure that has altered the recipients' ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COL11A1
Collagen alpha-1(XI) chain is a protein that in humans is encoded by the ''COL11A1'' gene. Function The COL11A1 gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Three transcript variants encoding different isoforms have been identified for this gene. Clinical significance Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. Stickler syndrome, type II is an autosomal dominant condition caused by a mutation in the COL11A1 Collagen alpha-1(XI) chain is a protein that in humans is encoded by the ''COL11A1'' gene. Function The COL11A1 gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but t ... gene. Features of Stickler syndrome type II include: sensorineural hearing loss, facial features (flat fac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cataract
A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble with bright lights, and trouble seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide. Cataracts are most commonly due to aging but may also occur due to trauma or radiation exposure, be present from birth, or occur following eye surgery for other problems. Risk factors include diabetes, longstanding use of corticosteroid medication, smoking tobacco, prolonged exposure to sunlight, and alcohol. The underlying mechanism involves accumulation of clumps of protein or yellow-brown pigment in the lens that reduces transmission of li ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Detached Retinas
Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized, but without rapid treatment the entire retina may detach, leading to vision loss and blindness. It is a surgical emergency. The retina is a thin layer of light-sensitive tissue on the back wall of the eye. The optical system of the eye focuses light on the retina much like light is focused on the film in a camera. The retina translates that focused image into neural impulses and sends them to the brain via the optic nerve. Occasionally, posterior vitreous detachment, injury or trauma to the eye or head may cause a small tear in the retina. The tear allows vitreous fluid to seep through it under the retina, and peel it away like a bubble in wallpaper. Diagnosis Symptoms As the retina is responsible for vision, persons experiencing a retinal detachment have vision loss. This can be painful or painless. Imaging Ultrasou ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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