Corneal Dystrophy-perceptive Deafness Syndrome
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Corneal Dystrophy-perceptive Deafness Syndrome
Corneal dystrophy-perceptive deafness syndrome, also known as Harboyan syndrome, is a rare genetic disorder characterized by congenital hereditary corneal dystrophy that occurs alongside progressive hearing loss of post-lingual onset. Signs and symptoms The following is a list of the symptoms people with this condition exhibit: * Corneal dystrophy * Clouding of the cornea * Nystagmus * Blurry vision * Generalized vision impairment * Progressive post-lingual hearing loss The latter usually appears between the ages of 20 and 30 years old. Complications The hearing loss and visual impairment associated with this condition can cause difficulties with living. Treatment Although this condition has no cure, it can be treated. Hearing loss * Hearing aids * Cochlear implant Corneal dystrophy * Contact lenses * Corneal transplant Diagnosis A diagnosis can be made by general symptom examination and with both ophthalmologic and audiometric studies. Genetics This co ...
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Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ...
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Sephardic Jewish
Sephardic (or Sephardi) Jews (, ; lad, Djudíos Sefardíes), also ''Sepharadim'' , Modern Hebrew: ''Sfaradim'', Tiberian: Səp̄āraddîm, also , ''Ye'hude Sepharad'', lit. "The Jews of Spain", es, Judíos sefardíes (or ), pt, Judeus sefarditas or Hispanic Jews, are a Jewish diaspora population associated with the Iberian Peninsula. The term, which is derived from the Hebrew ''Sepharad'' (), can also refer to the Mizrahi Jews of Western Asia and North Africa, who were also influenced by Sephardic law and customs. Many Iberian Jewish exiles also later sought refuge in Mizrahi Jewish communities, resulting in integration with those communities. The Jewish communities of the Iberian Peninsula prospered for centuries under the Muslim reign of Al-Andalus following the Umayyad conquest of Hispania, but their fortunes began to decline with the Christian ''Reconquista'' campaign to retake Spain. In 1492, the Alhambra Decree by the Catholic Monarchs of Spain called for the expulsi ...
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Syndromes Affecting The Nervous System
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ...
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Sensorineural Hearing Loss
Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). SNHL accounts for about 90% of reported hearing loss . SNHL is usually permanent and can be mild, moderate, severe, profound, or total. Various other descriptors can be used depending on the shape of the audiogram, such as high frequency, low frequency, U-shaped, notched, peaked, or flat. ''Sensory'' hearing loss often occurs as a consequence of damaged or deficient cochlear hair cells. Hair cells may be abnormal at birth or damaged during the lifetime of an individual. There are both external causes of damage, including infection, and ototoxic drugs, as well as intrinsic causes, including genetic mutations. A common cause or exacerbating factor in SNHL is prolonged exposure to environmental noise, or noise-induced hearing loss. Exposure to a single very loud noise such as ...
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Corneal Dystrophy
Corneal dystrophy is a group of rare hereditary disorders characterised by bilateral abnormal deposition of substances in the transparent front part of the eye called the cornea. Signs and symptoms Corneal dystrophy may not significantly affect vision in the early stages. However, it does require proper evaluation and treatment for restoration of optimal vision. Corneal dystrophies usually manifest themselves during the first or second decade but sometimes later. It appears as grayish white lines, circles, or clouding of the cornea. Corneal dystrophy can also have a crystalline appearance. There are over 20 corneal dystrophies that affect all parts of the cornea. These diseases share many traits: * They are usually inherited. * They affect the right and left eyes equally. * They are not caused by outside factors, such as injury or diet. * Most progress gradually. * Most usually begin in one of the five corneal layers and may later spread to nearby layers. * Most do not affect oth ...
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People Of The Dominican Republic
Dominicans ( es, Dominicanos, links=no) are the citizens of Dominican Republic and their descendants in the diaspora. Dominican is historically the name for the inhabitants of the Captaincy General of Santo Domingo, the site of the first Spanish settlement in the Western Hemisphere. The origins of the Dominican Republic, its people and culture consist predominantly in a European basis, with Native Taíno and African influences. The majority of Dominicans reside in the Dominican Republic, while there is also a large Dominican diaspora, mainly in the United States and Spain. The total population of the Dominican Republic in 2016 was estimated by the National Bureau of Statistics of the Dominican Republic at 10.2 million, with 9.3 million of those being natives of the country, and the rest being of foreign origin. The country has a right of blood citizenship law. Name Historically the Dominican Republic was known as Santo Domingo, the name of its present capital and its patron ...
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Morocco
Morocco (),, ) officially the Kingdom of Morocco, is the westernmost country in the Maghreb region of North Africa. It overlooks the Mediterranean Sea to the north and the Atlantic Ocean to the west, and has land borders with Algeria to the east, and the disputed territory of Western Sahara to the south. Mauritania lies to the south of Western Sahara. Morocco also claims the Spanish exclaves of Ceuta, Melilla and Peñón de Vélez de la Gomera, and several small Spanish-controlled islands off its coast. It spans an area of or , with a population of roughly 37 million. Its official and predominant religion is Islam, and the official languages are Arabic and Berber; the Moroccan dialect of Arabic and French are also widely spoken. Moroccan identity and culture is a mix of Arab, Berber, and European cultures. Its capital is Rabat, while its largest city is Casablanca. In a region inhabited since the Paleolithic Era over 300,000 years ago, the first Moroccan s ...
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Romani People
The Romani (also spelled Romany or Rromani , ), colloquially known as the Roma, are an Indo-Aryan ethnic group, traditionally nomadic itinerants. They live in Europe and Anatolia, and have diaspora populations located worldwide, with significant concentrations in the Americas. In the English language, the Romani people are widely known by the exonym Gypsies (or Gipsies), which is considered pejorative by many Romani people due to its connotations of illegality and irregularity as well as its historical use as a racial slur. For versions (some of which are cognates) of the word in many other languages (e.g., , , it, zingaro, , and ) this perception is either very small or non-existent. At the first World Romani Congress in 1971, its attendees unanimously voted to reject the use of all exonyms for the Romani people, including ''Gypsy'', due to their aforementioned negative and stereotypical connotations. Linguistic and genetic evidence suggests that the Roma originated ...
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Dutch People
The Dutch (Dutch: ) are an ethnic group and nation native to the Netherlands. They share a common history and culture and speak the Dutch language. Dutch people and their descendants are found in migrant communities worldwide, notably in Aruba, Suriname, Guyana, Curaçao, Argentina, Brazil, Canada,Based on Statistics Canada, Canada 2001 Censusbr>Linkto Canadian statistics. Australia, South Africa, New Zealand and the United States.According tFactfinder.census.gov The Low Countries were situated around the border of France and the Holy Roman Empire, forming a part of their respective peripheries and the various territories of which they consisted had become virtually autonomous by the 13th century. Under the Habsburgs, the Netherlands were organised into a single administrative unit, and in the 16th and 17th centuries the Northern Netherlands gained independence from Spain as the Dutch Republic. The high degree of urbanization characteristic of Dutch society was attained at a ...
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Portuguese-Brazilians
Portuguese Brazilians ( pt, luso-brasileiros) are Brazilians, Brazilians whose ancestry originates wholly or partly in Portugal. Most of the Portuguese people, Portuguese who arrived throughout the centuries in Brazil sought economic opportunities. Although present since the onset of the Portuguese colonization of the Americas, colonization, Portuguese people began migrating to Brazil in larger numbers and without state support in the 18th century. Nowadays, the Portuguese constitute the 2nd biggest group of foreigners living in the country (the largest being the Bolivians in Brazil, Bolivians), with an estimated 380,000 Portuguese immigrants currently living in Brazil. According to Portuguese law, any Brazilian who has at least one Portuguese parent or grandparent is eligible to obtain Portuguese citizenship (with some restrictions, especially for grandchildren). Five million Brazilians (2.5% of the population) fall under this category. Many more people are of Portuguese descen ...
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Indigenous People Of The Americas
The Indigenous peoples of the Americas are the inhabitants of the Americas before the arrival of the European settlers in the 15th century, and the ethnic groups who now identify themselves with those peoples. Many Indigenous peoples of the Americas were traditionally hunter-gatherers and many, especially in the Amazon basin, still are, but many groups practiced aquaculture and agriculture. While some societies depended heavily on agriculture, others practiced a mix of farming, hunting, and gathering. In some regions, the Indigenous peoples created monumental architecture, large-scale organized cities, city-states, chiefdoms, states, kingdoms, republics, confederacies, and empires. Some had varying degrees of knowledge of engineering, architecture, mathematics, astronomy, writing, physics, medicine, planting and irrigation, geology, mining, metallurgy, sculpture, and gold smithing. Many parts of the Americas are still populated by Indigenous peoples; some countries have sizeab ...
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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 a ...
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