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North Carolina Macular Dystrophy
North Carolina macular dystrophy is an extremely rare 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 t ... genetic disorder that primarily affects the eyes. It is a non-progressive disorder which is characterized by an abnormal development of the macula, multiple drusen, photoreceptor cells atrophy, and central vision loss. This condition is caused by mutations in chromosome 6q16 This disease was named after the U.S. state North Carolina due to the fact that the first people to be diagnosed with this disorder were members of a four-generation Irish-American family in North Carolina, since then, Latin American, European, and Asian families have been reported in medical literature to have this disorder as well. References {{Reflist Congenital disorders Ge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blindness
Visual impairment, also known as vision impairment, is a medical definition primarily measured based on an individual's better eye visual acuity; in the absence of treatment such as correctable eyewear, assistive devices, and medical treatment– visual impairment may cause the individual difficulties with normal daily tasks including reading and walking. Low vision is a functional definition of visual impairment that is chronic, uncorrectable with treatment or correctable lenses, and impacts daily living. As such low vision can be used as a disability metric and varies based on an individual's experience, environmental demands, accommodations, and access to services. The American Academy of Ophthalmology defines visual impairment as the best-corrected visual acuity of less than 20/40 in the better eye, and the World Health Organization defines it as a presenting acuity of less than 6/12 in the better eye. The term blindness is used for complete or nearly complete vision loss. In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication ( translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source of ... [...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 incomple ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic 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 chromosomal 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macula
The macula (/ˈmakjʊlə/) or macula lutea is an oval-shaped pigmented area in the center of the retina of the human eye and in other animals. The macula in humans has a diameter of around and is subdivided into the umbo, foveola, foveal avascular zone, fovea, parafovea, and perifovea areas. The anatomical macula at a size of is much larger than the clinical macula which, at a size of , corresponds to the anatomical fovea. The macula is responsible for the central, high-resolution, color vision that is possible in good light; and this kind of vision is impaired if the macula is damaged, for example in macular degeneration. The clinical macula is seen when viewed from the pupil, as in ophthalmoscopy or retinal photography. The term macula lutea comes from Latin ''macula'', "spot", and ''lutea'', "yellow". Structure The macula is an oval-shaped pigmented area in the center of the retina of the human eye and other animal eyes. Its center is shifted slightly away from ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Drusen
Drusen, from the German word for ''node'' or ''geode'' (singular, "Druse"), are tiny yellow or white accumulations of extracellular material that build up between Bruch's membrane and the retinal pigment epithelium of the eye. The presence of a few small ("hard") drusen is normal with advancing age, and most people over 40 have some hard drusen. However, the presence of larger and more numerous drusen in the macula is a common early sign of age-related macular degeneration (AMD). Classification Drusen are associated with aging and macular degeneration are distinct from another clinical entity, optic disc drusen, which is present on the optic nerve head. Both age-related drusen and optic disc drusen can be observed by ophthalmoscopy. Optical coherence tomography scans of the orbits or head, calcification at the head of the optic nerve without change in size of globe strongly suggests drusen in a middle-age or elderly patient. Whether drusen promote AMD or are symptomatic of an und ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 6
Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells. It contains the major histocompatibility complex, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation. Genes The human leukocyte antigen lies on chromosome 6, with the exception of the gene for β2-microglobulin (which is located on chromosome 15), and encodes cell-surface antigen-presenting proteins among other functions. Number of genes In 2003, the entirety of chromosome 6 was manually annotated for proteins, resulting in the identification of 1,557 genes, and 633 pseudogenes. The following are some of the newer gene count estimates. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome v ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
North Carolina
North Carolina () is a state in the Southeastern region of the United States. The state is the 28th largest and 9th-most populous of the United States. It is bordered by Virginia to the north, the Atlantic Ocean to the east, Georgia and South Carolina to the south, and Tennessee to the west. In the 2020 census, the state had a population of 10,439,388. Raleigh is the state's capital and Charlotte is its largest city. The Charlotte metropolitan area, with a population of 2,595,027 in 2020, is the most-populous metropolitan area in North Carolina, the 21st-most populous in the United States, and the largest banking center in the nation after New York City. The Raleigh-Durham-Cary combined statistical area is the second-largest metropolitan area in the state and 32nd-most populous in the United States, with a population of 2,043,867 in 2020, and is home to the largest research park in the United States, Research Triangle Park. The earliest evidence of human occu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Irish Americans
, image = Irish ancestry in the USA 2018; Where Irish eyes are Smiling.png , image_caption = Irish Americans, % of population by state , caption = Notable Irish Americans , population = 36,115,472 (10.9%) alone or in combination 10,899,442 (3.3%) Irish alone 33,618,500(10.1%) alone or in combination 9,919,263 (3.0%) Irish alone , popplace = Boston New York City Scranton Philadelphia New Orleans Pittsburgh Cleveland Chicago Baltimore Detroit Milwaukee Louisville New England Delaware Valley Coal Region Los Angeles Las Vegas Atlanta Sacramento San Diego Houston Dallas San Francisco Palm Springs, California Fairbanks and most urban areas , langs = English ( American English dialects); a scant speak Irish , rels = Protestant (51%) Catholic (36%) Other (3%) No religion (10%) (2006) , related = Anglo-Irish people Breton Americans Cornish Americans English Americans Iris ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Latin America
Latin America or * french: Amérique Latine, link=no * ht, Amerik Latin, link=no * pt, América Latina, link=no, name=a, sometimes referred to as LatAm is a large cultural region in the Americas where Romance languages — languages derived from Latin — are predominantly spoken. The term was coined in the nineteenth century, to refer to regions in the Americas that were ruled by the Spanish, Portuguese and French empires. The term does not have a precise definition, but it is "commonly used to describe South America, Central America, Mexico, and the islands of the Caribbean." In a narrow sense, it refers to Spanish America plus Brazil ( Portuguese America). The term "Latin America" is broader than categories such as '' Hispanic America'', which specifically refers to Spanish-speaking countries; and '' Ibero-America'', which specifically refers to both Spanish and Portuguese-speaking countries while leaving French and British excolonies aside. The term ''Latin America' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Europe
Europe is a large peninsula conventionally considered a continent in its own right because of its great physical size and the weight of its history and traditions. Europe is also considered a subcontinent of Eurasia and it is located entirely in the Northern Hemisphere and mostly in the Eastern Hemisphere. Comprising the westernmost peninsulas of Eurasia, it shares the continental landmass of Afro-Eurasia with both Africa and Asia. It is bordered by the Arctic Ocean to the north, the Atlantic Ocean to the west, the Mediterranean Sea to the south and Asia to the east. Europe is commonly considered to be separated from Asia by the watershed of the Ural Mountains, the Ural River, the Caspian Sea, the Greater Caucasus, the Black Sea and the waterways of the Turkish Straits. "Europe" (pp. 68–69); "Asia" (pp. 90–91): "A commonly accepted division between Asia and Europe ... is formed by the Ural Mountains, Ural River, Caspian Sea, Caucasus Mountains, and the Blac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Asia
Asia (, ) is one of the world's most notable geographical regions, which is either considered a continent in its own right or a subcontinent of Eurasia, which shares the continental landmass of Afro-Eurasia with Africa. Asia covers an area of , about 30% of Earth's total land area and 8.7% of Earth's total surface area. The continent, which has long been home to the majority of the human population, was the site of many of the first civilizations. Its 4.7 billion people constitute roughly 60% of the world's population. In general terms, Asia is bounded on the east by the Pacific Ocean, on the south by the Indian Ocean, and on the north by the Arctic Ocean. The border of Asia with Europe is a historical and cultural construct, as there is no clear physical and geographical separation between them. It is somewhat arbitrary and has moved since its first conception in classical antiquity. The division of Eurasia into two continents reflects East–West cultural, ling ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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