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Deaf-blind
Deafblindness is the condition of little or no useful hearing and little or no useful sight. Different degrees of vision loss and auditory loss occur within each individual. Because of this inherent diversity, each deafblind individual's needs regarding lifestyle, communication, education, and work need to be addressed based on their degree of dual-modality deprivation, to improve their ability to live independently. In 1994, an estimated 35,000–40,000 United States residents were medically deafblind. Helen Keller was a well-known example of a deafblind individual. To further her lifelong mission to help the deafblind community to expand its horizons and gain opportunities, the Helen Keller National Center for Deaf-Blind Youths and Adults (also called the Helen Keller National Center or HKNC), with a residential training program in Sands Point, New York, was established in 1967 by an act of Congress. The deafblind community has its own culture, comparable to those of the deaf ...
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Helen Keller National Center For Deaf-Blind Youths And Adults
The Helen Keller National Center for Deaf-Blind Youths and Adults (also known as the Helen Keller National Center or HKNC) is a foundation in the United States that provides services for individuals who, like Helen Keller, are both blind and deaf. Authorized by an Act of Congress in 1967, the Center provides nationwide services for people who are deaf-blind according to the definition of deaf-blindness in the Helen Keller Act. It operates a residential rehabilitation and training facility at its headquarters in Sands Point, New York, which opened in 1976, and a system of ten regional field offices, also supporting families and professional carers. In 2010 the Center served 72 adult training clients and specialized short term training for 26 clients; in addition the regional programs served 1,478 consumers, 441 families, and 881 organizations. The organization provides independent living skills training, referral, employment training, counseling, and transition assistance for in ...
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Usher Syndrome
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is a major cause of deafblindness and is at present incurable. Usher syndrome is classed into three subtypes (I, II and III) according to the genes responsible and the onset of deafness. All three subtypes are caused by mutations in genes involved in the function of the inner ear and retina. These mutations are inherited in an autosomal recessive pattern. The occurrence of Usher syndrome varies across the world and across the different syndrome types, with rates as high as 1 in 12,500 in Germany to as low as 1 in 28,000 in Norway. Type I is most common in Ashkenazi Jewish and Acadian populations, and type III is rarely found outside Ashkenazi Jewish and Finnish populations ...
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Helen KellerA
Helen may refer to: People * Helen of Troy, in Greek mythology, the most beautiful woman in the world * Helen (actress) (born 1938), Indian actress * Helen (given name), a given name (including a list of people with the name) Places * Helen, Georgia, United States, a small city * Helen, Maryland, United States, an unincorporated place * Helen, Washington, an unincorporated community in Washington state, US * Helen, West Virginia, a census-designated place in Raleigh County * Helen Falls, a waterfall in Ontario, Canada * Lake Helen (other), several places called Helen Lake or Lake Helen * Helen, an ancient name of Makronisos island, Greece * The Hellenic Republic, Greece Arts, entertainment, and media * ''Helen'' (album), a 1981 Grammy-nominated album by Helen Humes * ''Helen'' (2008 film), a British drama starring Annie Townsend * ''Helen'' (2009 film), an American drama film starring Ashley Judd * ''Helen'' (2017 film), an Iranian drama film * ''Helen'' (201 ...
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Congenital Syphilis
Congenital syphilis is syphilis present ''in utero'' and at birth, and occurs when a child is born to a mother with syphilis. Untreated early syphilis infections results in a high risk of poor pregnancy outcomes, including saddle nose, lower extremity abnormalities, miscarriages, premature births, stillbirths, or death in newborns. Some infants with congenital syphilis have symptoms at birth, but many develop symptoms later. Symptoms may include rash, fever, an enlarged liver and spleen, and skeletal abnormalities. Newborns will typically not develop a primary syphilitic chancre but may present with signs of secondary syphilis (i.e. generalized body rash). Often these babies will develop syphilitic rhinitis ("snuffles"), the mucus from which is laden with the '' T. pallidum'' bacterium, and therefore highly infectious. If a baby with congenital syphilis is not treated early, damage to the bones, teeth, eyes, ears, and brain can occur. Classification Early This is a subset of c ...
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Traumatic Brain Injury
A traumatic brain injury (TBI), also known as an intracranial injury, is an injury to the brain caused by an external force. TBI can be classified based on severity (ranging from mild traumatic brain injury TBI/concussionto severe traumatic brain injury), mechanism (closed or penetrating head injury), or other features (e.g., occurring in a specific location or over a widespread area). Head injury is a broader category that may involve damage to other structures such as the scalp and skull. TBI can result in physical, cognitive, social, emotional and behavioral symptoms, and outcomes can range from complete recovery to permanent disability or death. Causes include falls, vehicle collisions and violence. Brain trauma occurs as a consequence of a sudden acceleration or deceleration within the cranium or by a complex combination of both movement and sudden impact. In addition to the damage caused at the moment of injury, a variety of events following the injury may result in ...
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Brain Damage
Neurotrauma, brain damage or brain injury (BI) is the destruction or degeneration of brain cells. Brain injuries occur due to a wide range of internal and external factors. In general, brain damage refers to significant, undiscriminating trauma-induced damage. A common category with the greatest number of injuries is traumatic brain injury (TBI) following physical trauma or head injury from an outside source, and the term acquired brain injury (ABI) is used in appropriate circles to differentiate brain injuries occurring after birth from injury, from a genetic disorder (GBI), or from a congenital disorder (CBI). Primary and secondary brain injuries identify the processes involved, while focal and diffuse brain injury describe the severity and localization. Recent research has demonstrated that neuroplasticity, which allows the brain to reorganize itself by forming new neural connections throughout life, provides for rearrangement of its workings. This allows the brain ...
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Meningitis
Meningitis is acute or chronic inflammation of the protective membranes covering the brain and spinal cord, collectively called the meninges. The most common symptoms are fever, headache, and neck stiffness. Other symptoms include confusion or altered consciousness, nausea, vomiting, and an inability to tolerate light or loud noises. Young children often exhibit only nonspecific symptoms, such as irritability, drowsiness, or poor feeding. A non-blanching rash (a rash that does not fade when a glass is rolled over it) may also be present. The inflammation may be caused by infection with viruses, bacteria or other microorganisms. Non-infectious causes include malignancy (cancer), subarachnoid haemorrhage, chronic inflammatory disease (sarcoidosis) and certain drugs. Meningitis can be life-threatening because of the inflammation's proximity to the brain and spinal cord; therefore, the condition is classified as a medical emergency. A lumbar puncture, in which a needle is ins ...
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Alport Syndrome
Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses. The disorder was first identified in a British family by the physician Cecil A. Alport in 1927. Alport syndrome once also had the label hereditary nephritis, but this is misleading as there are many other causes of hereditary kidney disease and 'nephritis'. Alport syndrome is caused by an inherited defect in type IV collagen—a structural material that is needed for the normal function of different parts of the body. Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body (ears, eyes, kidneys, et ...
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Patau Syndrome
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects. This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D or T13), or because each cell contains an extra partial copy of the chromosome, or because there are two different lines of cells—one healthy with the correct number of chromosomes 13 and one that contains an extra copy of the chromosome—mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis (the mosaic form is caused by nondisjunction during mitosis). Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being th ...
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Stickler Syndrome
Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of rare genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and skeletal problems. It was first studied and characterized by Gunnar B. Stickler in 1965. Signs and symptoms Individuals with Stickler syndrome experience a range of signs and symptoms. Some people have no signs and symptoms; others have some or all of the features described below. In addition, each feature of this syndrome may vary from subtle to severe. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features, called the Pierre Robin sequence, is comm ...
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Congenital Rubella Syndrome
Congenital rubella syndrome (CRS) can occur in a developing fetus of a pregnant woman who has contracted rubella, usually in the first trimester. If infection occurs 0–28 days before conception, the infant has a 43% risk of being affected. If the infection occurs 0–12 weeks after conception, the risk increases to 81%. If the infection occurs 13–26 weeks after conception, the risk is 54% of the infant being affected by the disease. Infants are not generally affected if rubella is contracted during the third trimester, or 26–40 weeks after conception. Problems rarely occur when rubella is contracted by the mother after 20 weeks of gestation and continues to disseminate the virus after birth. It was discovered in 1941 by Australian Norman McAlister Gregg. __TOC__ Signs and symptoms The classic triad for congenital rubella syndrome is: * Sensorineural deafness (58% of patients) * Eye abnormalities—especially retinopathy, cataract, glaucoma, and microphthalmia (43% of pa ...
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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 stiff ...
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